Factor V Variant Database

Data Export Options:

UNIQUE (Without Patient Data) :

EXCEL/CSV

TABULAR

MULTIPLE (With Patient Data) :

EXCEL/CSV

TABULAR

Full List of Variants: 363 unique variants retrieved (displaying 50 entries per page). Scroll down to navigate to the next page(s).

1 2 3 4 5 6 7 8

Terms with a '*' next to them are explained on the Help Page .

c.911G>A

p.Gly304Glu (Legacy AA No. 276)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 6

Mutation Effect:

Missense

Codon Change:

911G>A

No. of Patients Reported:

Phenotype:

Mild

Association:

FV Deficiency

Allele Count *:

Allele Number *:

251412

Allele Frequency *:

0.000016

References and Comments:

Delev et al 2009
bleeding after invasive procedures

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
103	NA	M	NA	7	NA	NA	NA	Homozygous		Mild	bleeding after invasive procedures	Delev et al 2009
104	NA	M	NA	44	NA	NA	NA	Heterozygous		Asymptomatic	bleeding after invasive procedures	Delev et al 2009

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.996A>C

p.Lys332Asn (Legacy AA No. 304)

Mutation Type:

Point

Domain:

Location:

Exon 6

Mutation Effect:

Missense

Codon Change:

996A>C

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

282764

Allele Frequency *:

0.000315

References and Comments:

NCBI Clinvar Variation ID: 569550
NA

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
105	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 569550
106	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 569550

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1000A>G

p.Arg334Gly (Legacy AA No. 306)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 7

Mutation Effect:

Missense

Codon Change:

1000A>G

No. of Patients Reported:

Phenotype:

Association:

thrombosis

Allele Count *:

183

Allele Number *:

282770

Allele Frequency *:

0.000647

References and Comments:

Chan et al 1998
first of two thrombotic cases and one non-thrombotic case from survey

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Severity	Comments	Reference
107	NA	N	NA	NA	NA	NA	NA	Heterozygous	NA	first of two thrombotic cases and one non-thrombotic case from survey	Chan et al 1998
108	NA	N	NA	NA	NA	NA	NA	Heterozygous	NA	NA	Chan et al 1998
109	NA	N	NA	NA	NA	NA	NA	Heterozygous	NA	one non-thrombotic case (of 40) from survey	Chan et al 1998

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1001G>C

p.Arg334Thr (Legacy AA No. 306)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 7

Mutation Effect:

Missense

Codon Change:

1001G>C

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

thrombosis

Allele Count *:

Allele Number *:

251352

Allele Frequency *:

0.000227

References and Comments:

Williamson et al 1998
47 years old; spontaneous proximal DVT

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
110	NA	M	NA	94-134	NA	NA	NA	Heterozygous		Asymptomatic	47 years old; spontaneous proximal DVT	Williamson et al 1998
111	NA	F	NA	94-134	NA	NA	NA	Heterozygous		Asymptomatic	NA	Williamson et al 1998

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1012A>T

p.Lys338* (Legacy AA No. 310)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 7

Mutation Effect:

Nonsense

Codon Change:

1012A>T

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

251380

Allele Frequency *:

0.000004

References and Comments:

van Wijk et al 2001A
NA

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Severity	Comments	Reference
112	NA	M	NA	34	NA	51	NA	Heterozygous	Asymptomatic	NA	van Wijk et al 2001A
113	NA	M	NA	62	NA	69	NA	Heterozygous	Asymptomatic	NA	van Wijk et al 2001A
114	NA	M	NA	60	NA	64	NA	Heterozygous	Asymptomatic	NA	van Wijk et al 2001A

Structural Interpretation:

Structural analysis cannot be performed on this (Point | Nonsense) variant.

c.1021C>T

p.Arg341Cys (Legacy AA No. 313)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 7

Mutation Effect:

Missense

Codon Change:

1021C>T

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

215

Allele Number *:

282768

Allele Frequency *:

0.00076

References and Comments:

Paraboschi et al 2020
Mild FV deficiency (>13% FV:C)

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
115	NA	N	NA	13	NA	18	NA	Heterozygous	c.6443T>C (p.Met2148Thr)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
776	NA	N	NA	13	NA	18	NA	Heterozygous	c.6443T>C (p.Met2148Thr)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1033C>T

p.Arg345Trp (Legacy AA No. 317)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 7

Mutation Effect:

Missense

Codon Change:

1033C>T

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

282798

Allele Frequency *:

0.000202

References and Comments:

NCBI Clinvar Variation ID: 874622
NA

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
116	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 874622
117	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 874622

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1034G>A

p.Arg345Gln (Legacy AA No. 317)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 7

Mutation Effect:

Missense

Codon Change:

1034G>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

251422

Allele Frequency *:

0.000056

References and Comments:

NCBI Clinvar Variation ID: 293632
NA

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Severity	Comments	Reference
118	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293632
119	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293632
120	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293632

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1042_1049del

p.Lys348Glyfs*32 (Legacy AA No. 320)

Mutation Type:

Deletion

Domain:

d5A2

Location:

Exon 7

Mutation Effect:

Frameshift

Codon Change:

1042_1049del

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

van Wijk et al 2001A
soft tissue bleeds of the mouth, epistaxis, fresh frozen plasma used to treat

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
121	NA	F	NA	<1	NA	<3	NA	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Severe	soft tissue bleeds of the mouth, epistaxis, fresh frozen plasma used to treat	van Wijk et al 2001A
596	NA	F	NA	0	NA	<3	NA	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Severe	soft tissue bleeds of the mouth, epistaxis	van Wijk et al 2001A

Structural Interpretation:

Structural analysis cannot be performed on this (Deletion | Frameshift) variant.

c.1059C>G

p.Phe353Leu (Legacy AA No. 325)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 7

Mutation Effect:

Missense

Codon Change:

1059C>G

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

251444

Allele Frequency *:

0.000012

References and Comments:

Cai et al 2007
NA

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
122	NA	F	NA	4	NA	4	NA	Heterozygous	c.5520_5526dup (p.His1843Argfs*15)	Moderate	NA	Cai et al 2007
123	NA	F	NA	52	NA	58	NA	Heterozygous		Asymptomatic	NA	Cai et al 2007
124	NA	M	NA	45	NA	42	NA	Heterozygous		Asymptomatic	NA	Cai et al 2007
644	NA	F	NA	4	NA	4	NA	Heterozygous	c.5520_5526dup (p.His1843Argfs*15)	Moderate	NA	Cai et al 2007

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1064C>T

p.Ala355Val (Legacy AA No. 327)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 7

Mutation Effect:

Missense

Codon Change:

1064C>T

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Delev et al 2009
NA

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
125	NA	F	NA	50	NA	NA	NA	Heterozygous		Asymptomatic	NA	Delev et al 2009

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1106C>T

p.Ala369Val (Legacy AA No. 341)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 7

Mutation Effect:

Missense

Codon Change:

1106C>T

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

282842

Allele Frequency *:

0.000159

References and Comments:

NCBI Clinvar Variation ID: 293631
NA

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Severity	Comments	Reference
126	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293631
127	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293631
128	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293631
129	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293631

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1118+5G>T

NA (Legacy AA No. NA)

Mutation Type:

Point

Domain:

Intron

Location:

Intron 7

Mutation Effect:

Intronic

Codon Change:

1118+5G>T

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Al-Numair et al 2019
mild menorrhagia

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
130	NA	F	NA	44	NA	NA	NA	Heterozygous	c.6443T>C (p.Met2148Thr)	Asymptomatic	mild menorrhagia	Al-Numair et al 2019
131	NA	F	NA	35	NA	NA	NA	Heterozygous	c.6443T>C (p.Met2148Thr)	Asymptomatic	mild menorrhagia; heterozygous for p.(Met2148Thr)	Al-Numair et al 2019
132	NA	F	NA	32	NA	NA	NA	Heterozygous	c.6443T>C (p.Met2148Thr)	Asymptomatic	bleeding after invasive procedure, epistaxis, anaemia; heterozgous for p.(Met2148Thr)	Al-Numair et al 2019
133	NA	F	NA	35	NA	NA	NA	Heterozygous	c.6443T>C (p.Met2148Thr)	Asymptomatic	mild bleeding, mild epistaxis and bruising; heterozgous for p.(Met2148Thr)	Al-Numair et al 2019
770	NA	F	NA	44	NA	NA	NA	Heterozygous	c.6443T>C (p.Met2148Thr)	Asymptomatic	mild menorrhagia	Al-Numair et al 2019
771	NA	F	NA	35	NA	NA	NA	Heterozygous	c.6443T>C (p.Met2148Thr)	Asymptomatic	mild menorrhagia; heterozygous for p.(Met2148Thr) polymorphism	Al-Numair et al 2019
772	NA	F	NA	32	NA	NA	NA	Heterozygous	c.6443T>C (p.Met2148Thr)	Asymptomatic	bleeding after procedure, spontaneous epistaxis, anaemia; heterozgous for p.(Met2148Thr) polymorphism	Al-Numair et al 2019
773	NA	F	NA	35	NA	NA	NA	Heterozygous	c.6443T>C (p.Met2148Thr)	Asymptomatic	mild bleeding symptoms, mild epistaxis; heterozgous for p.(Met2148Thr) polymorphism	Al-Numair et al 2019

Structural Interpretation:

Structural analysis cannot be performed on this (Point | Intronic) variant.

c.1118+1278

NA (Legacy AA No. NA)

Mutation Type:

Point

Domain:

Intron

Location:

Intron 7

Mutation Effect:

Intronic

Codon Change:

1118+1278

No. of Patients Reported:

Phenotype:

Mild

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Cutler et al 2010
NA

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
134	NA	M	NA	6	NA	6	NA	Heterozygous	c.776G>A (p.Gly259Glu)	Mild	NA	Cutler et al 2010
92	NA	M	NA	6	NA	6	NA	Heterozygous	c.776G>A (p.Gly259Glu)	Mild	NA	Cutler et al 2010

Structural Interpretation:

Structural analysis cannot be performed on this (Point | Intronic) variant.

c.1119-12C>G

NA (Legacy AA No. NA)

Mutation Type:

Point

Domain:

Intron

Location:

Intron 7

Mutation Effect:

Intronic

Codon Change:

1119-12C>G

No. of Patients Reported:

Phenotype:

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Peyvandi et al 2002
NA

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
135	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	Peyvandi et al 2002

Structural Interpretation:

Structural analysis cannot be performed on this (Point | Intronic) variant.

c.1128G>T

p.Arg376Ser (Legacy AA No. 348)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

1128G>T

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

282256

Allele Frequency *:

0.000078

References and Comments:

Delev et al 2009
NA

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
136	NA	F	NA	33	NA	NA	NA	Heterozygous	c.5009T>G (p.Leu1670Arg)	Asymptomatic	NA	Delev et al 2009
559	NA	F	NA	33	NA	NA	NA	Heterozygous	c.5009T>G (p.Leu1670Arg)	Asymptomatic	NA	Delev et al 2009

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1135_1136delCA

p.His379Phefs*3 (Legacy AA No. 351)

Mutation Type:

Deletion

Domain:

d5A2

Location:

Exon 8

Mutation Effect:

Frameshift

Codon Change:

1135_1136delCA

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Paraboschi et al 2020
Mild FV deficiency (>13% FV:C); heterozygous for HR2 haplotype variants

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
137	NA	N	NA	30	NA	30	NA	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	Mild FV deficiency (>13% FV:C); heterozygous for HR2 haplotype variants	Paraboschi et al 2020
487	NA	N	NA	30	NA	30	NA	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020

Structural Interpretation:

Structural analysis cannot be performed on this (Deletion | Frameshift) variant.

c.1160T>C

p.Ile387Thr (Legacy AA No. 359)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

1160T>C

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

thrombosis

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Mumford et al 2003
NA

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
138	NA	M	NA	39	NA	NA	NA	Heterozygous	c.439G>T (p.Glu147*)	Asymptomatic	NA	Mumford et al 2003
139	NA	M	NA	35	NA	NA	NA	Heterozygous	c.439G>T (p.Glu147*)	Asymptomatic	thrombosis even with warfarin therapy; APC resistance	Mumford et al 2003
140	NA	M	NA	104	NA	NA	NA	Heterozygous		Asymptomatic	NA	Mumford et al 2003
53	NA	M	NA	39	NA	NA	NA	Heterozygous	c.439G>T (p.Glu147*)	Asymptomatic	thrombosis of femoral vein and inferior vena cava: recurrent thrombosis even with warfarin treatment; APC resistance	Mumford et al 2003
54	NA	M	NA	35	NA	NA	NA	Heterozygous	c.439G>T (p.Glu147*)	Asymptomatic	thrombosis even with warfarin therapy; APC resistance	Mumford et al 2003

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1181T>C

p.Val394Ala (Legacy AA No. 366)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

1181T>C

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

282670

Allele Frequency *:

0.00011

References and Comments:

NCBI Clinvar Variation ID: 1084788
NA

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
141	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1084788

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1238T>C

p.Met413Thr (Legacy AA No. 385)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

1238T>C

No. of Patients Reported:

Phenotype:

Association:

thrombosis

Allele Count *:

21159

Allele Number *:

282730

Allele Frequency *:

0.074838

References and Comments:

de Visser et al 2000
NA

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
142	NA	B	NA	NA	NA	NA	NA	Both		NA	NA	de Visser et al 2000
143	NA	N	NA	NA	NA	NA	NA	Not reported		NA	NA	Chegeni et al 2007

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1258G>T

p.Gly420Cys (Legacy AA No. 392)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

1258G>T

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

251382

Allele Frequency *:

0.000004

References and Comments:

Chen et al 2005
gum bleeding and bruising, intra-abdominal bleeding after appendectomy requiring fresh-frozen plasma treatment

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
144	NA	M	NA	2	NA	3	NA	Homozygous		Moderate	gum bleeding and bruising, intra-abdominal bleeding after appendectomy requiring fresh-frozen plasma treatment	Chen et al 2005
145	NA	M	NA	43	NA	45	NA	Heterozygous		Asymptomatic	NA	Chen et al 2005
146	NA	F	NA	76	NA	87	NA	Heterozygous		Asymptomatic	NA	Chen et al 2005
147	NA	F	NA	72	NA	85	NA	Heterozygous		Asymptomatic	NA	Chen et al 2005
148	NA	F	NA	63	NA	72	NA	Heterozygous		Asymptomatic	NA	Chen et al 2005
149	NA	F	NA	0	NA	1	NA	Heterozygous	c.4798delG (p.Glu1600Lysfs*19)	Severe	prolonged bleeding after opthalmological surgery requiring fresh frozen plasma treatment	Fu Q et al 2003
150	NA	M	NA	70	NA	40	NA	Heterozygous		Asymptomatic	NA	Fu Q et al 2003
151	NA	M	NA	49	NA	26	NA	Heterozygous		Asymptomatic	NA	Fu Q et al 2003
152	NA	M	NA	53	NA	36	NA	Heterozygous		Asymptomatic	NA	Fu Q et al 2003
153	NA	M	NA	36	NA	30	NA	Heterozygous		Asymptomatic	NA	Fu Q et al 2003
535	NA	F	NA	<1	NA	1	NA	Heterozygous	c.4798delG (p.Glu1600Lysfs*19)	Severe	opthalmological surgery requiring transfusions of fresh frozen plasma	Fu Q et al 2003

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1265T>C

p.Ile422Thr (Legacy AA No. 394)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 8

Mutation Effect:

Missense

Codon Change:

1265T>C

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

NCBI Clinvar Variation ID: 1176519
NA

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
154	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1176519

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1281C>G

p.Val427Val (Legacy AA No. 399)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 8

Mutation Effect:

Silent

Codon Change:

1281C>G

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Nuzzo et al 2015A
muscle bleeds induced by mild trauma needing fresh frozen plasma treatment

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
155	NA	M	NA	<1	NA	<1	NA	Heterozygous	c.578G>C (p.Cys193Ser)	Severe	muscle bleeds induced by mild trauma needing fresh frozen plasma treatment	Nuzzo et al 2015A
68	NA	M	NA	0	NA	<1	NA	Heterozygous	c.578G>C (p.Cys193Ser)	Severe	muscle caused by mild trauma needing fresh frozen plasma treatment	Nuzzo et al 2015A

Structural Interpretation:

Structural analysis cannot be performed on this (Point | Silent) variant.

c.1296+6T>C

NA (Legacy AA No. NA)

Mutation Type:

Point

Domain:

Intron

Location:

Intron 8

Mutation Effect:

Intronic

Codon Change:

1296+6T>C

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Dall'osso et al 2008
epistaxis

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
156	NA	F	NA	5	NA	6	NA	Homozygous		Moderate	epistaxis	Dall'osso et al 2008

Structural Interpretation:

Structural analysis cannot be performed on this (Point | Intronic) variant.

c.1296+268A>G

NA (Legacy AA No. NA)

Mutation Type:

Point

Domain:

Intron

Location:

Intron 8

Mutation Effect:

Intronic

Codon Change:

1296+268A>G

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Castoldi et al 2011
limb hematomas at birth and bleeding after umbilical cord resection; intracranial haemorrhage

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
157	NA	M	NA	<1	NA	<2	NA	Homozygous		Severe	limb hematomas at birth and bleeding after umbilical cord resection; intracranial haemorrhage	Castoldi et al 2011
158	NA	F	NA	37	NA	43	NA	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	NA	Castoldi et al 2011
159	NA	M	NA	65	NA	68	NA	Heterozygous		Asymptomatic	NA	Castoldi et al 2011
483	NA	F	NA	37	NA	43	NA	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	NA	Castoldi et al 2011

Structural Interpretation:

Structural analysis cannot be performed on this (Point | Intronic) variant.

c.1297-2A>G

NA (Legacy AA No. NA)

Mutation Type:

Point

Domain:

Intron

Location:

Intron 8

Mutation Effect:

Intronic

Codon Change:

1297-2A>G

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Fu QH et al 2004
haemorrhage after appendectomy; intracerebral haemorrhage

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Severity	Comments	Reference
161	NA	M	NA	2	NA	7	NA	Homozygous	Moderate	haemorrhage after appendectomy; intracerebral haemorrhage	Fu QH et al 2004
162	NA	M	NA	68	NA	47	NA	Heterozygous	Asymptomatic	NA	Fu QH et al 2004
163	NA	M	NA	55	NA	38	NA	Heterozygous	Asymptomatic	NA	Fu QH et al 2004
164	NA	M	NA	66	NA	48	NA	Heterozygous	Asymptomatic	NA	Fu QH et al 2004
165	NA	F	NA	68	NA	50	NA	Heterozygous	Asymptomatic	NA	Fu QH et al 2004

Structural Interpretation:

Structural analysis cannot be performed on this (Point | Intronic) variant.

Delexon9-10

NA (Legacy AA No. NA)

Mutation Type:

Deletion

Domain:

Location:

Exon 9

Mutation Effect:

Frameshift

Codon Change:

Delexon9-10

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Nuzzo et al 2015B
NA

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
160	NA	N	NA	<5	NA	NA	NA	Heterozygous		Asymptomatic	NA	Nuzzo et al 2015B

Structural Interpretation:

Structural analysis cannot be performed on this (Deletion | Frameshift) variant.

c.1300G>A

p.Val434Met (Legacy AA No. 406)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 9

Mutation Effect:

Missense

Codon Change:

1300G>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

282614

Allele Frequency *:

0.000053

References and Comments:

NCBI Clinvar Variation ID: 293630
NA

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
166	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293630
167	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293630

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1309A>G

p.Asn437Asp (Legacy AA No. 409)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 9

Mutation Effect:

Missense

Codon Change:

1309A>G

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Paraboschi et al 2020
Mild FV deficiency (>13% FV:C)

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
168	NA	N	NA	28	NA	31	NA	Heterozygous	c.6443T>C (p.Met2148Thr)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
777	NA	N	NA	28	NA	31	NA	Heterozygous	c.6443T>C (p.Met2148Thr)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1321C>T

p.Arg441Cys (Legacy AA No. 413)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 9

Mutation Effect:

Missense

Codon Change:

1321C>T

No. of Patients Reported:

Phenotype:

Association:

FV Deficiency

Allele Count *:

Allele Number *:

282636

Allele Frequency *:

0.00005

References and Comments:

Delev et al 2009
NA

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
169	NA	F	NA	NA	NA	NA	NA	Heterozygous		NA	NA	Delev et al 2009
170	NA	M	NA	68	NA	68	NA	Heterozygous		Asymptomatic	NA	Jin et al 2009
171	NA	M	NA	6	NA	33	NA	Heterozygous	c.785C>T (p.Ser262Leu)	Mild	NA	Jin et al 2009
172	NA	F	NA	67	NA	74	NA	Heterozygous		Asymptomatic	NA	Jin et al 2009
173	NA	N	NA	2	NA	<1	NA	Heterozygous	c.5630C>A (p.Ser1877*)	Moderate	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
663	NA	N	NA	2	NA	<1	NA	Heterozygous	c.5630C>A (p.Ser1877*)	Moderate	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
93	NA	M	NA	6	NA	33	NA	Heterozygous	c.785C>T (p.Ser262Leu)	Mild	NA	Jin et al 2009

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1334T>C

p.Ile445Thr (Legacy AA No. 417)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 9

Mutation Effect:

Missense

Codon Change:

1334T>C

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Kling et al 2006
extreme bleeding after surgery and tooth extractions

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
174	NA	M	NA	<5	NA	5	NA	Heterozygous	c.4699_4702dupATTG (p.Ala1568Aspfs*21)	Asymptomatic	extreme bleeding after surgery and tooth extractions	Kling et al 2006
175	NA	F	NA	46	NA	50	NA	Heterozygous		Asymptomatic	NA	Kling et al 2006
527	NA	M	NA	<5	NA	5	NA	Heterozygous	c.4699_4702dupATTG (p.Ala1568Aspfs*21)	Asymptomatic	bleeding following abdominal surgery and tooth removal	Kling et al 2006

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1340C>G

p.Pro447Arg (Legacy AA No. 419)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 9

Mutation Effect:

Missense

Codon Change:

1340C>G

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

251282

Allele Frequency *:

0.000012

References and Comments:

Borhany et al 2019
bruising, haematoma requiring fresh-frozen plasma

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
176	NA	M	NA	1.8	NA	NA	NA	Homozygous		Moderate	bruising, haematoma requiring fresh-frozen plasma	Borhany et al 2019
177	NA	M	NA	0	NA	NA	NA	Heterozygous	c.3088C>T (p.Arg1030*)	Severe	melaena, haemarthrosis	Borhany et al 2019
178	NA	N	NA	0	NA	NA	NA	Heterozygous	c.5052_5053insTTTC (p.Thr1685Phefs*4)	Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
392	NA	M	NA	<1	NA	NA	NA	Heterozygous	c.3088C>T (p.Arg1030*)	Severe	melaena, haemarthrosis	Borhany et al 2019
562	NA	N	NA	<1	NA	NA	NA	Heterozygous	c.5052_5053insTTTC (p.Thr1685Phefs*4)	Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1391C>T

p.Thr464Ile (Legacy AA No. 436)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 9

Mutation Effect:

Missense

Codon Change:

1391C>T

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

108

Allele Number *:

282730

Allele Frequency *:

0.000382

References and Comments:

NCBI Clinvar Variation ID: 293629
NA

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Severity	Comments	Reference
179	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293629
180	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293629
181	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293629

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1411A>T

p.Met471Leu (Legacy AA No. 443)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 10

Mutation Effect:

Missense

Codon Change:

1411A>T

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

thrombosis

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Guzman et al 2015
NA

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
182	NA	F	NA	100	NA	NA	NA	Not Reported		Asymptomatic	NA	Guzman et al 2015

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1426C>T

p.Gln476* (Legacy AA No. 448)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 10

Mutation Effect:

Nonsense

Codon Change:

1426C>T

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Delev et al 2009
pseudo-homozygous FV Leiden: one thrombotic episode

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
183	NA	M	NA	67	NA	NA	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	pseudo-homozygous FV Leiden: one thrombotic episode	Delev et al 2009
184	NA	F	NA	30	NA	NA	NA	Heterozygous		Asymptomatic	haematuria	Delev et al 2009
220	NA	M	NA	67	NA	NA	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	pseudo-homozygous FV Leiden: one thrombotic episode	Delev et al 2009

Structural Interpretation:

Structural analysis cannot be performed on this (Point | Nonsense) variant.

c.1465G>C

p.Glu489Gln (Legacy AA No. 461)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 10

Mutation Effect:

Missense

Codon Change:

1465G>C

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

thrombosis

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Guzman et al 2015
NA

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
185	NA	M	NA	95	NA	NA	NA	Not Reported		Asymptomatic	NA	Guzman et al 2015

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1498T>G

p.Cys500Gly (Legacy AA No. 472)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 10

Mutation Effect:

Missense

Codon Change:

1498T>G

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Montefusco et al 2003
severe bleeding episodes after dental extraction and minor trauma

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
186	NA	F	NA	0	NA	3	NA	Heterozygous	c.5037dupA (p.Ser1680Ilefs*8)	Severe	severe bleeding episodes after dental extraction and minor trauma	Montefusco et al 2003
561	NA	F	NA	<1	NA	3	NA	Heterozygous	c.5037dupA (p.Ser1680Ilefs*8)	Severe	bleeding of soft tissues of the mouth; severe epistaxis, hematomas, melaena, menorrhagia and hemarthroses	Montefusco et al 2003

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1516_1518delTAC

p.Tyr506del (Legacy AA No. 478)

Mutation Type:

Deletion

Domain:

d5A2

Location:

Exon 10

Mutation Effect:

Inframe

Codon Change:

1516_1518delTAC

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Jones et al 2007
Severe bleeding

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
187	NA	M	NA	2	NA	NA	NA	Heterozygous	c.2862delT (p.Ser955Alafs*4)	Moderate	Severe bleeding	Jones et al 2007
188	NA	F	NA	68	NA	NA	NA	Heterozygous		Asymptomatic	NA	Jones et al 2007
373	NA	M	NA	2	NA	NA	NA	Heterozygous	c.2862delT (p.Ser955Alafs*4)	Moderate	NA	Jones et al 2007

Structural Interpretation:

Structural analysis cannot be performed on this (Deletion | Inframe) variant.

c.1538G>A

p.Arg513Lys (Legacy AA No. 485)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 10

Mutation Effect:

Missense

Codon Change:

1538G>A

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

thrombosis

Allele Count *:

32032

Allele Number *:

282794

Allele Frequency *:

0.11327

References and Comments:

Hiyoshi et al 1998
NA

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Severity	Comments	Reference
189	NA	N	NA	normal	NA	NA	NA	Both	Asymptomatic	NA	Hiyoshi et al 1998
190	NA	N	NA	NA	NA	NA	NA	Both	NA	NA	Le et al 2000
191	NA	N	NA	normal	NA	NA	NA	Both	Asymptomatic	NA	Gandrille et al 1995

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1546G>T

p.Ala516Ser (Legacy AA No. 488)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 10

Mutation Effect:

Missense

Codon Change:

1546G>T

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

NCBI Clinvar Variation ID: 874517
NA

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
192	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 874517

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1561G>A

p.Gly521Arg (Legacy AA No. 493)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 10

Mutation Effect:

Missense

Codon Change:

1561G>A

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Kovacs et al 2009
extreme bleeding after surgeries including tonsillectomy at age 9; severe vaginal bleeding during first delivery

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
193	NA	F	NA	32	NA	38	NA	Heterozygous		Asymptomatic	extreme bleeding after surgeries including tonsillectomy at age 9; severe vaginal bleeding during first delivery	Kovacs et al 2009
194	NA	F	NA	35	NA	33	NA	Heterozygous		Asymptomatic	NA	Kovacs et al 2009

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1562G>A

p.Gly521Glu (Legacy AA No. 493)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 10

Mutation Effect:

Missense

Codon Change:

1562G>A

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

thrombosis

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Guzman et al 2015
NA

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
195	NA	F	NA	84	NA	NA	NA	Not Reported		Asymptomatic	NA	Guzman et al 2015

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1599delG

p.Arg533Serfs*41 (Legacy AA No. 505)

Mutation Type:

Deletion

Domain:

d5A2

Location:

Exon 10

Mutation Effect:

Frameshift

Codon Change:

1599delG

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

251194

Allele Frequency *:

0.000004

References and Comments:

Schrijver et al 2005
several intracranial haemorrhages, oral bleeding with tooth loss

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Severity	Comments	Reference
196	NA	N	NA	<1	NA	6	NA	Homozygous	Severe	several intracranial haemorrhages, oral bleeding with tooth loss	Schrijver et al 2005
197	NA	F	NA	55	NA	40	NA	Heterozygous	Asymptomatic	NA	Schrijver et al 2005
198	NA	M	NA	55	NA	37	NA	Heterozygous	Asymptomatic	NA	Schrijver et al 2005

Structural Interpretation:

Structural analysis cannot be performed on this (Deletion | Frameshift) variant.

c.1600delC

p.Arg534Lysfs*40 (Legacy AA No. 506)

Mutation Type:

Deletion

Domain:

d5A2

Location:

Exon 10

Mutation Effect:

Frameshift

Codon Change:

1600delC

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Paraboschi et al 2020
spontaneous intracranial hemorrhage

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
202	NA	N	NA	<1	NA	2	NA	Heterozygous	c.4934delG (p.Gly1645Valfs*19)	Severe	spontaneous intracranial hemorrhage	Paraboschi et al 2020
553	NA	N	NA	<1	NA	2	NA	Heterozygous	c.4934delG (p.Gly1645Valfs*19)	Severe	spontaneous intracranial hemorrhage	Paraboschi et al 2020

Structural Interpretation:

Structural analysis cannot be performed on this (Deletion | Frameshift) variant.

c.1600C>T

p.Arg534* (Legacy AA No. 506)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 10

Mutation Effect:

Nonsense

Codon Change:

1600C>T

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Suzuki et al 2018
also has F8 mutations

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Severity	Comments	Reference
199	NA	M	NA	38	NA	NA	NA	Heterozygous	Asymptomatic	also has F8 mutations	Suzuki et al 2018
200	NA	M	NA	29	NA	NA	NA	Heterozygous	Asymptomatic	also has F8 c.6506G>A = FVIII p.(Arg2169His) (mild haemophilia A)	Suzuki et al 2018
201	NA	F	NA	50	NA	NA	NA	Heterozygous	Asymptomatic	also has F8 c.6506G>A = FVIII p.(Arg2169His)	Suzuki et al 2018

Structural Interpretation:

Structural analysis cannot be performed on this (Point | Nonsense) variant.

c.1601G>A

p.Arg534Gln (Legacy AA No. 506)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 10

Mutation Effect:

Missense

Codon Change:

1601G>A

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

thrombosis

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Castoldi et al 2004
NA

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
183	NA	M	NA	67	NA	NA	NA	Heterozygous	c.1426C>T (p.Gln476*)	Asymptomatic	pseudo-homozygous FV Leiden: one thrombotic episode	Delev et al 2009
203	NA	F	NA	91	NA	NA	NA	Homozygous		Asymptomatic	NA	Castoldi et al 2004
204	NA	M	NA	121	NA	NA	NA	Homozygous		Asymptomatic	Thrombotic episodes	Castoldi et al 2004
205	NA	F	NA	<1	NA	<1	NA	Homozygous	c.3481C>T (p.Arg1161*)	Severe	homozygous for FV Leiden, but nonsense variant in cis rescues	van Wijk et al 2001B
206	NA	M	NA	<1	NA	<1	NA	Homozygous	c.3481C>T (p.Arg1161*)	Severe	homozygous for FV Leiden, but nonsense variant in cis rescues	van Wijk et al 2001B
207	NA	F	NA	65	NA	53	NA	Heterozygous	c.6179G>A (p.Gly2060Asp)	Asymptomatic	retinal vein thrombosis	Asselta et al 2004
208	NA	F	NA	50	NA	39	NA	Heterozygous	c.6179G>A (p.Gly2060Asp)	Asymptomatic	NA	Asselta et al 2004
209	NA	F	NA	47	NA	46	NA	Heterozygous	c.6179G>A (p.Gly2060Asp)	Asymptomatic	NA	Asselta et al 2004
210	NA	N	NA	41	NA	46	NA	Heterozygous	c.5176C>T (p.Arg1726Trp)	Asymptomatic	epistaxis	Calzavarini et al 2013
211	NA	F	NA	47	NA	53	NA	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	history of venous thrombosis; pseudohomozygous APC resistance	Castaman et al 1997
212	NA	M	NA	45	NA	52	NA	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	stroke aged 41; pseudohomozygous APC resistance	Castaman et al 1997
213	NA	F	NA	98	NA	96	NA	Heterozygous		Asymptomatic	DVT aged 55	Castaman et al 1997
214	NA	M	NA	50	NA	48	NA	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	NA	Castaman et al 1997
215	NA	F	NA	42	NA	54	NA	Heterozygous	c.3615_3616dupTC (p.Pro1206Leufs*47)	Asymptomatic	pseudo-homozygous APC resistance	Castoldi et al 1998
216	NA	M	NA	50	NA	50	NA	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Asymptomatic	pseudohomozygous FV Leiden; right leg DVT	Castoldi et al 2000A
217	NA	M	NA	50	NA	50	NA	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Asymptomatic	recurrent thromboses; pseudohomozygous APC resistance	Castoldi et al 2001
218	NA	F	NA	45	NA	40	NA	Heterozygous	c.6523delG (p.Asp2175Thrfs*14)	Asymptomatic	pseudohomozygous APC resistance	Dargaud et al 2003
219	NA	F	NA	50	NA	48	NA	Heterozygous	c.5592delT (p.Leu1864Cysfs*10)	Asymptomatic	NA	Dargaud et al 2003
220	NA	M	NA	67	NA	NA	NA	Heterozygous	c.1426C>T (p.Gln476*)	Asymptomatic	pseudo-homozygous FV Leiden: one thrombotic episode	Delev et al 2009
221	NA	M	NA	72	NA	73	NA	Heterozygous	c.5419G>A (p.Ala1807Thr)	Asymptomatic	Previous thrombotic episodes	Guasch et al 1997
222	NA	M	NA	52	NA	NA	NA	Heterozygous	c.2218C>T (p.Arg740*)	Asymptomatic	pseudohomozygous APC resistance; three DVTs	Lunghi et al 1998
223	NA	F	NA	110	NA	NA	NA	Heterozygous		Asymptomatic	one thrombophlebitic episode	Lunghi et al 1998
224	NA	M	NA	55	NA	54	NA	Heterozygous	c.4906G>A (p.Glu1636Lys)	Asymptomatic	DVT	Lunghi et al 2005B
225	NA	F	NA	57	NA	NA	NA	Heterozygous	c.4906G>A (p.Glu1636Lys)	Asymptomatic	recurrent phlebitis	Lunghi et al 2005B
226	NA	M	NA	20	NA	NA	NA	Heterozygous	c.4906G>A (p.Glu1636Lys)	Asymptomatic	carotid thrombosis and recurrent DVT	Lunghi et al 2005B
227	NA	F	NA	65	NA	43	NA	Heterozygous	c.5236G>A (p.Gly1746Ser)	Asymptomatic	normal APCR ratio despite heterozygous FV Leiden	Pruller et al 2013
228	NA	M	NA	72	NA	37	NA	Heterozygous	c.5236G>A (p.Gly1746Ser)	Asymptomatic	normal APCR ratio even with heterozygous FV Leiden	Pruller et al 2013
229	NA	F	NA	54	NA	30	NA	Heterozygous	c.5236G>A (p.Gly1746Ser)	Asymptomatic	normal APCR ratio even though heterozygous FV Leiden	Pruller et al 2013
230	NA	F	NA	76	NA	52	NA	Heterozygous	c.5236G>A (p.Gly1746Ser)	Asymptomatic	normal APCR ratio even though heterozygous FV Leiden	Pruller et al 2013
231	NA	N	NA	61	NA	51	NA	Heterozygous	c.6212delG (p.Gly2071Valfs*7)	Asymptomatic	VTE	Simioni et al 2005
232	NA	N	NA	56	NA	59	NA	Heterozygous	c.6419G>A (p.Gly2140Asp)	Asymptomatic	VTE	Simioni et al 2005
233	NA	N	NA	50	NA	60	NA	Heterozygous	c.3615_3616dupTC (p.Pro1206Leufs*47)	Asymptomatic	VTE	Simioni et al 2005
234	NA	N	NA	45	NA	44	NA	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Asymptomatic	VTE	Simioni et al 2005
235	NA	N	NA	51	NA	46	NA	Heterozygous	c.5764C>T (p.Gln1922*)	Asymptomatic	VTE	Simioni et al 2005
236	NA	M	NA	55	NA	NA	NA	Heterozygous	c.4699_4702dupATTG (p.Ala1568Aspfs*21)	Asymptomatic	pseudohomozygous FV Leiden: thrombophilia	Zehnder et al 1999A see erratum & Mo
237	NA	F	NA	100	NA	NA	NA	Heterozygous		Asymptomatic	NA	Zehnder et al 1999A see erratum & Mo
238	NA	N	NA	NA	NA	NA	NA	Both		NA	first reports of prothrombotic F5 Leiden variant	Bertina et al 1994
296	NA	M	NA	52	NA	NA	NA	Heterozygous	c.2218C>T (p.Arg740*)	Asymptomatic	pseudohomozygous APC resistance: thrombotic episodes in lower limbs; three DVTs;	Lunghi et al 1998
434	NA	F	NA	<1	NA	<1	NA	Homozygous	c.3481C>T (p.Arg1161*)	Severe	NA	van Wijk et al 2001B
435	NA	M	NA	<1	NA	<1	NA	Homozygous	c.3481C>T (p.Arg1161*)	Severe	NA	van Wijk et al 2001B
445	NA	F	NA	42	NA	54	NA	Heterozygous	c.3615_3616dupTC (p.Pro1206Leufs*47)	Asymptomatic	pseudo-homozygous APC resistance	Castoldi et al 1998
446	NA	N	NA	50	NA	60	NA	Heterozygous	c.3615_3616dupTC (p.Pro1206Leufs*47)	Asymptomatic	VTE	Simioni et al 2005
478	NA	M	NA	45	NA	52	NA	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	stroke aged 41; pseudohomozygous APC resistance	Castaman et al 1997
480	NA	M	NA	50	NA	48	NA	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	pseudohomozygous APC resistance	Castaman et al 1997
481	NA	F	NA	47	NA	53	NA	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	pseudohomozygous APC resistance	Castaman et al 1997
528	NA	M	NA	55	NA	NA	NA	Heterozygous	c.4699_4702dupATTG (p.Ala1568Aspfs*21)	Asymptomatic	pseudohomozygous FV Leiden; thrombotic episodes	Zehnder et al 1999A see erratum & Mo
546	NA	M	NA	55	NA	54	NA	Heterozygous	c.4906G>A (p.Glu1636Lys)	Asymptomatic	DVT	Lunghi et al 2005B
547	NA	F	NA	57	NA	NA	NA	Heterozygous	c.4906G>A (p.Glu1636Lys)	Asymptomatic	phlebitis	Lunghi et al 2005B
548	NA	M	NA	20	NA	NA	NA	Heterozygous	c.4906G>A (p.Glu1636Lys)	Asymptomatic	recurrent DVT and occlusive carotid thrombosis	Lunghi et al 2005B
571	NA	N	NA	41	NA	46	NA	Heterozygous	c.5176C>T (p.Arg1726Trp)	Asymptomatic	epistaxis	Calzavarini et al 2013
583	NA	M	NA	50	NA	50	NA	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Asymptomatic	pseudohomozygous FV Leiden; right leg DVT	Castoldi et al 2000A
591	NA	M	NA	50	NA	50	NA	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Asymptomatic	recurrent thromboses; pseudohomozygous APC resistance	Castoldi et al 2001
594	NA	N	NA	45	NA	44	NA	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Asymptomatic	VTE	Simioni et al 2005
605	NA	F	NA	65	NA	43	NA	Heterozygous	c.5236G>A (p.Gly1746Ser)	Asymptomatic	normal APCR ratio despite heterozygous FV Leiden	Pruller et al 2013
606	NA	M	NA	72	NA	37	NA	Heterozygous	c.5236G>A (p.Gly1746Ser)	Asymptomatic	normal APCR ratio despite heterozygous FV Leiden	Pruller et al 2013
607	NA	F	NA	54	NA	30	NA	Heterozygous	c.5236G>A (p.Gly1746Ser)	Asymptomatic	normal APCR ratio despite heterozygous FV Leiden	Pruller et al 2013
608	NA	F	NA	76	NA	52	NA	Heterozygous	c.5236G>A (p.Gly1746Ser)	Asymptomatic	normal APCR ratio despite heterozygous FV Leiden	Pruller et al 2013
631	NA	M	NA	72	NA	73	NA	Heterozygous	c.5419G>A (p.Ala1807Thr)	Asymptomatic	history of thrombosis	Guasch et al 1997
659	NA	F	NA	50	NA	48	NA	Heterozygous	c.5592delT (p.Leu1864Cysfs*10)	Asymptomatic	in cis rescue from APC resistance; superficial thrombosis	Dargaud et al 2003
676	NA	N	NA	51	NA	46	NA	Heterozygous	c.5764C>T (p.Gln1922*)	Asymptomatic	VTE	Simioni et al 2005
727	NA	F	NA	65	NA	53	NA	Heterozygous	c.6179G>A (p.Gly2060Asp)	Asymptomatic	retinal vein thrombosis	Asselta et al 2004
728	NA	F	NA	50	NA	39	NA	Heterozygous	c.6179G>A (p.Gly2060Asp)	Asymptomatic	NA	Asselta et al 2004
729	NA	F	NA	47	NA	46	NA	Heterozygous	c.6179G>A (p.Gly2060Asp)	Asymptomatic	NA	Asselta et al 2004
734	NA	N	NA	61	NA	51	NA	Heterozygous	c.6212delG (p.Gly2071Valfs*7)	Asymptomatic	VTE	Simioni et al 2005
769	NA	N	NA	56	NA	59	NA	Heterozygous	c.6419G>A (p.Gly2140Asp)	Asymptomatic	VTE	Simioni et al 2005
780	NA	F	NA	45	NA	40	NA	Heterozygous	c.6523delG (p.Asp2175Thrfs*14)	Asymptomatic	pseudohomozygous APC resistance	Dargaud et al 2003

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1611G>T

p.Gln537His (Legacy AA No. 509)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 10

Mutation Effect:

Missense

Codon Change:

1611G>T

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Schrijver et al 2002B
umblical bleeding at birth; gingival bleeding; repeated CNS haemorrhage

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
239	NA	F	NA	0	NA	8	NA	Homozygous	c.4210C>T (p.Pro1404Ser)	Severe	umblical bleeding at birth; gingival bleeding; repeated CNS haemorrhage	Schrijver et al 2002B
240	NA	F	NA	25	NA	48	NA	Heterozygous		Asymptomatic	NA	Schrijver et al 2002B
241	NA	M	NA	26	NA	NA	NA	Heterozygous		Asymptomatic	NA	Schrijver et al 2002B
242	NA	F	NA	29	NA	30	NA	Heterozygous		Asymptomatic	NA	Schrijver et al 2002B
509	NA	F	NA	0	NA	8	NA	Homozygous	c.4210C>T (p.Pro1404Ser)	Severe	umblical bleeding at birth; gingival bleeding; CNS haemorrhage; splice error and chain termination upstream	Schrijver et al 2002B

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1619C>T

p.Ala540Val* (Legacy AA No. 512)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 10

Mutation Effect:

Missense

Codon Change:

1619C>T

No. of Patients Reported:

Phenotype:

Association:

thrombosis

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Pezeshkpoor et al 2016
NA

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
243	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	Pezeshkpoor et al 2016

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1624A>G

p.Ile542Val (Legacy AA No. 514)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 10

Mutation Effect:

Missense

Codon Change:

1624A>G

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

282632

Allele Frequency *:

0.000032

References and Comments:

NCBI Clinvar Variation ID: 293626
NA

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
244	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293626
245	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293626

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1631A>G

p.Gln544Arg (Legacy AA No. 516)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 11

Mutation Effect:

Missense

Codon Change:

1631A>G

No. of Patients Reported:

Phenotype:

Association:

thrombosis

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Abdi et al 2017
NA

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
246	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	Abdi et al 2017

Structural Interpretation:

Please click HERE for in-depth variant analysis.

1 2 3 4 5 6 7 8

Factor X Variant Database

Factor V Gene (F5)

Variant Database

Data Export Options:

UNIQUE (Without Patient Data) : EXCEL/CSV TABULAR MULTIPLE (With Patient Data) : EXCEL/CSV TABULAR

Full List of Variants: 363 unique variants retrieved (displaying 50 entries per page). Scroll down to navigate to the next page(s).

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

UNIQUE (Without Patient Data) :

EXCEL/CSV

TABULAR

MULTIPLE (With Patient Data) :

EXCEL/CSV

TABULAR