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.1633C>T

p.Gln545* (Legacy AA No. 517)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 11

Mutation Effect:

Nonsense

Codon Change:

1633C>T

No. of Patients Reported:

Phenotype:

Association:

FV Deficiency

Allele Count *:

Allele Number *:

251304

Allele Frequency *:

0.000044

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
247	NA	M	NA	NA	NA	NA	NA	Heterozygous		NA	NA	Delev et al 2009

Structural Interpretation:

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

c.1640T>C

p.Val547Ala (Legacy AA No. 519)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 11

Mutation Effect:

Missense

Codon Change:

1640T>C

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

251330

Allele Frequency *:

0.000016

References and Comments:

NCBI Clinvar Variation ID: 391573
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
248	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 391573

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1652T>C

p.Phe551Ser (Legacy AA No. 523)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 11

Mutation Effect:

Missense

Codon Change:

1652T>C

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
249	NA	N	NA	18	NA	44	NA	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1654G>C

p.Asp552His (Legacy AA No. 524)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 11

Mutation Effect:

Missense

Codon Change:

1654G>C

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Duckers et al 2010
epistaxis and gum bleeding age 5; severe bleeding postpartum

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
250	NA	F	NA	0	NA	2	NA	Homozygous		Severe	epistaxis and gum bleeding age 5; severe bleeding postpartum	Duckers et al 2010
251	NA	F	NA	0	NA	6	NA	Homozygous		Severe	epistaxis in childhood; excessive bleeding after tooth extraction	Duckers et al 2010

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1667G>A

p.Ser556Asn (Legacy AA No. 528)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 11

Mutation Effect:

Missense

Codon Change:

1667G>A

No. of Patients Reported:

Phenotype:

Association:

FV Deficiency

Allele Count *:

Allele Number *:

251424

Allele Frequency *:

0.000008

References and Comments:

Maharaj et al 2021
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
252	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	Maharaj et al 2021

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1671G>C

p.Trp557Cys (Legacy AA No. 529)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 11

Mutation Effect:

Missense

Codon Change:

1671G>C

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

NCBI Clinvar Variation ID: 627013
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
253	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 627013

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1673A>C

p.Tyr558Ser (Legacy AA No. 530)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 11

Mutation Effect:

Missense

Codon Change:

1673A>C

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

31386

Allele Frequency *:

0.000032

References and Comments:

Xie et al 2001
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
254	NA	N	NA	0	NA	<1	NA	Not reported		Severe	NA	Xie et al 2001
255	NA	M	NA	1	NA	2	NA	Heterozygous	c.5420-1G>T	Moderate	epistaxis and mouth soft tissue bleeds	Zheng et al 2006; see also PMID 2066
256	NA	M	NA	NA	NA	NA	NA	Heterozygous		NA	NA	Zheng et al 2006; see also PMID 2066
632	NA	M	NA	1	NA	2	NA	Heterozygous	c.5420-1G>T	Moderate	epistaxis and mouth soft tissue bleeds	Zheng et al 2006; see also PMID 2066

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1674C>A

p.Tyr558* (Legacy AA No. 530)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 11

Mutation Effect:

Nonsense

Codon Change:

1674C>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

31386

Allele Frequency *:

0.000032

References and Comments:

NCBI Clinvar Variation ID: 666966
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
257	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 666966

Structural Interpretation:

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

c.1830_1831dup

p.His611fs (Legacy AA No. 583)

Mutation Type:

Duplication

Domain:

d5A2

Location:

Exon 11

Mutation Effect:

Frameshift

Codon Change:

1830_1831dup

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

NCBI Clinvar Variation ID: 627264
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
258	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 627264

Structural Interpretation:

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

c.1837T>C

p.Cys613Arg (Legacy AA No. 585)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 12

Mutation Effect:

Missense

Codon Change:

1837T>C

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

251116

Allele Frequency *:

0.000008

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
259	NA	M	NA	55	NA	59	NA	Heterozygous	Asymptomatic	NA	van Wijk et al 2001A
260	NA	F	NA	NA	NA	66	NA	Heterozygous	NA	NA	van Wijk et al 2001A
261	NA	M	NA	52	NA	65	NA	Heterozygous	Asymptomatic	NA	van Wijk et al 2001A
262	NA	F	NA	59	NA	68	NA	Heterozygous	Asymptomatic	NA	van Wijk et al 2001A
263	NA	F	NA	39	NA	38	NA	Heterozygous	Asymptomatic	NA	van Wijk et al 2001A

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1852dupC

p.Gln618Profs*3 (Legacy AA No. 590)

Mutation Type:

Duplication

Domain:

d5A2

Location:

Exon 12

Mutation Effect:

Frameshift

Codon Change:

1852dupC

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Yamakage et al 2006
recurrent 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
264	NA	F	NA	<3	NA	<1	NA	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Asymptomatic	recurrent epistaxis	Yamakage et al 2006
265	NA	F	NA	65	NA	NA	NA	Heterozygous		Asymptomatic	NA	Yamakage et al 2006
266	NA	M	NA	65	NA	NA	NA	Heterozygous		Asymptomatic	NA	Yamakage et al 2006
597	NA	F	NA	<3	NA	<1	NA	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Asymptomatic	recurrent epistaxis, joint haematoma	Yamakage et al 2006

Structural Interpretation:

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

c.1867A>G

p.Thr623Ala (Legacy AA No. 595)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 12

Mutation Effect:

Missense

Codon Change:

1867A>G

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

NCBI Clinvar Variation ID: 691480
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
267	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 691480

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1883G>A

p.Gly628Glu (Legacy AA No. 600)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 12

Mutation Effect:

Missense

Codon Change:

1883G>A

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Paraboschi et al 2020
subdural hemorrhage, post injury bleeding treated with 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
268	NA	N	NA	2	NA	<1	NA	Homozygous		Moderate	subdural hemorrhage, post injury bleeding treated with fresh-frozen plasma	Paraboschi et al 2020
269	NA	N	NA	0	NA	NA	NA	Homozygous		Severe	post-trauma subdural hemorrhage, three episodes of severe hemarthrosis; bleeding from rectum; treated with fresh-frozen plasma	Paraboschi et al 2020

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1973T>C

p.Val658Ala (Legacy AA No. 630)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 12

Mutation Effect:

Missense

Codon Change:

1973T>C

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

250980

Allele Frequency *:

0.000008

References and Comments:

NCBI Clinvar Variation ID: 1308782
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
270	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1308782

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1975+5G>A

NA (Legacy AA No. NA)

Mutation Type:

Point

Domain:

Intron

Location:

Intron 12

Mutation Effect:

Intronic

Codon Change:

1975+5G>A

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Guella et al 2011
bleeding post circumcision, bleeding from umbilical venous catheter that required 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
2	NA	M	NA	1	NA	NA	NA	Heterozygous	delexon1-7c.3980A>G (p.His1327Arg)	Moderate	heel pricks and prolonged bleeding, circumcision caused bleeding, bleeding that required a transfusion with blood and fresh-frozen plasma (day 2)	Guella et al 2011
271	NA	M	NA	1	NA	NA	NA	Heterozygous	delexon1-7c.3980A>G (p.His1327Arg)	Moderate	bleeding post circumcision, bleeding from umbilical venous catheter that required fresh-frozen plasma	Guella et al 2011
272	NA	M	NA	NA	NA	NA	NA	Heterozygous	c.3980A>G (p.His1327Arg)	NA	NA	Guella et al 2011
484	NA	M	NA	1	NA	NA	NA	Heterozygous	delexon1-7c.3980A>G (p.His1327Arg)	Moderate	NA	Guella et al 2011
485	NA	M	NA	NA	NA	NA	NA	Heterozygous	c.3980A>G (p.His1327Arg)	NA	NA	Guella et al 2011

Structural Interpretation:

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

c.1975+1G

NA (Legacy AA No. NA)

Mutation Type:

Point

Domain:

Intron

Location:

Intron 12

Mutation Effect:

Intronic

Codon Change:

1975+1G>A

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
274	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.delexon13

NA (Legacy AA No. NA)

Mutation Type:

Deletion

Domain:

Location:

Exon 13

Mutation Effect:

Truncation

Codon Change:

delexon13

No. of Patients Reported:

Phenotype:

Association:

FV Atlanta

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Zimowski et al 2021
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
273	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	Zimowski et al 2021

Structural Interpretation:

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

c.1975G>A

p.Gly659Arg (Legacy AA No. 631)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

1975G>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

250928

Allele Frequency *:

0.000004

References and Comments:

NCBI Clinvar Variation ID: 627029
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
275	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 627029

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1990A>G

p.Thr664Ala (Legacy AA No. 636)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

1990A>G

No. of Patients Reported:

Phenotype:

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Baz et al 2021
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
276	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	Baz et al 2021

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.1999_2002dupAATT

p.Ser668* (Legacy AA No. 640)

Mutation Type:

Duplication

Domain:

d5A2

Location:

Exon 13

Mutation Effect:

Nonsense

Codon Change:

1999_2002dupAATT

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Moret et al 2019
heavy menstruation and heavy bleeding after tonsillectomy

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
277	NA	F	NA	37	NA	NA	NA	Heterozygous		Asymptomatic	heavy menstruation and heavy bleeding after tonsillectomy	Moret et al 2019

Structural Interpretation:

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

c.2032A>G

p.Lys678Glu (Legacy AA No. 650)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

2032A>G

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

281632

Allele Frequency *:

0.000209

References and Comments:

Kanaji et al 2009
age 76

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
278	NA	M	NA	50	NA	36	NA	Heterozygous		Asymptomatic	age 76	Kanaji et al 2009

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.2037C>G

p.Phe679Leu (Legacy AA No. 651)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

2037C>G

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

31396

Allele Frequency *:

0.000032

References and Comments:

NCBI Clinvar Variation ID: 875334
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
279	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 875334

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.2042A>G

p.Asp681Gly (Legacy AA No. 653)

Mutation Type:

Point

Domain:

d5A2

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

2042A>G

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

NCBI Clinvar Variation ID: 293623
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
280	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293623
281	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293623

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.2051G>A

p.Cys684Tyr (Legacy AA No. 656)

Mutation Type:

Point

Domain:

d5a2

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

2051G>A

No. of Patients Reported:

Phenotype:

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Cao et al 2008
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
282	NA	N	NA	low	NA	low	NA	Not reported		NA	NA	Cao et al 2008

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.2082G>C

p.Glu694Asp (Legacy AA No. 666)

Mutation Type:

Point

Domain:

d5a2

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

2082G>C

No. of Patients Reported:

Phenotype:

Association:

thrombosis

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Cai et al 2010
vein thrombosis and pulmonary embolism

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
283	NA	F	NA	NA	NA	NA	NA	Heterozygous	NA	vein thrombosis and pulmonary embolism	Cai et al 2010
284	NA	F	NA	206	NA	NA	NA	Heterozygous	Asymptomatic	NA	Cai et al 2010
285	NA	F	NA	135	NA	NA	NA	Heterozygous	Asymptomatic	NA	Cai et al 2010
286	NA	M	NA	143	NA	NA	NA	Heterozygous	Asymptomatic	NA	Cai et al 2010

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.2105C>T

p.Thr702Ile (Legacy AA No. 674)

Mutation Type:

Point

Domain:

d5a2

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

2105C>T

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

982

Allele Number *:

282324

Allele Frequency *:

0.003478

References and Comments:

NCBI Clinvar Variation ID: 783954
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
287	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 783954

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.2127G>A

p.Met709Ile (Legacy AA No. 681)

Mutation Type:

Point

Domain:

d5a2

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

2127G>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

NCBI Clinvar Variation ID: 161460
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
288	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 161460

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.2129A>G

p.His710Arg (Legacy AA No. 682)

Mutation Type:

Point

Domain:

d5a2

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

2129A>G

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

285

Allele Number *:

282458

Allele Frequency *:

0.001009

References and Comments:

NCBI Clinvar Variation ID: 716055
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
289	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 716055

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.2135G>A

p.Arg712His (Legacy AA No. 684)

Mutation Type:

Point

Domain:

d5a2

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

2135G>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

282420

Allele Frequency *:

0.000025

References and Comments:

NCBI Clinvar Variation ID: 806275
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
290	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 806275

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.2149_2150delGA

p.Asp717* (Legacy AA No. 689)

Mutation Type:

Deletion

Domain:

Location:

Exon 13

Mutation Effect:

Frameshift

Codon Change:

2149_2150delGA

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

251084

Allele Frequency *:

0.000004

References and Comments:

Fu QH et al 2004
bruising and gum bleeding; GI bleeding 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
291	NA	M	NA	<1	NA	2	NA	Heterozygous	c.6320G>T (p.Gly2107Val)	Severe	bruising and gum bleeding; GI bleeding requiring fresh frozen plasma	Fu QH et al 2004
292	NA	F	NA	54	NA	56	NA	Heterozygous		Asymptomatic	NA	Fu QH et al 2004
293	NA	N	NA	<1	NA	2	NA	Heterozygous	c.6320G>T (p.Gly2107Val)	Severe	NA	Zhou et al 2005
759	NA	M	NA	0	NA	2	NA	Heterozygous	c.6320G>T (p.Gly2107Val)	Severe	recurrent epistaxis, easy bruising and gum bleeding; GI bleeding requiring fresh frozen plasma infusion	Fu QH et al 2004
761	NA	N	NA	0	NA	2	NA	Heterozygous	c.6320G>T (p.Gly2107Val)	Severe	NA	Zhou et al 2005

Structural Interpretation:

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

c.2208C>T

p.Ile736Ile (Legacy AA No. 708)

Mutation Type:

Point

Domain:

d5a2

Location:

Exon 13

Mutation Effect:

Silent

Codon Change:

2208C>T

No. of Patients Reported:

Phenotype:

Association:

thrombosis

Allele Count *:

77229

Allele Number *:

282440

Allele Frequency *:

0.273435

References and Comments:

Kostka 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
294	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	Kostka et al 2000

Structural Interpretation:

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

c.2218C>T

p.Arg740* (Legacy AA No. 712)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Nonsense

Codon Change:

2218C>T

No. of Patients Reported:

Phenotype:

Moderate

Association:

thrombosis

Allele Count *:

Allele Number *:

282550

Allele Frequency *:

0.000085

References and Comments:

Coppola et al 2010
recurrent epistaxis; 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
222	NA	M	NA	52	NA	NA	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	pseudohomozygous APC resistance; three DVTs	Lunghi et al 1998
295	NA	F	NA	1	NA	NA	NA	Heterozygous	c.3510_3511delAA (p.Ile1170Metfs*10)	Moderate	recurrent epistaxis; menorrhagia	Coppola et al 2010
296	NA	M	NA	52	NA	NA	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	pseudohomozygous APC resistance: thrombotic episodes in lower limbs; three DVTs;	Lunghi et al 1998
297	NA	M	NA	44	NA	NA	NA	Heterozygous		Asymptomatic	NA	Lunghi et al 1998
298	NA	M	NA	<1	NA	5	NA	Heterozygous	c.5521G>A (p.Val1841Met)	Severe	epistaxis and easy bruising requiring plasma infusion after dental extraction	Montefusco et al 2003
299	NA	F	NA	61	NA	85	NA	Heterozygous		Asymptomatic	mild menorrhagia	Montefusco et al 2003
300	NA	M	NA	60	NA	88	NA	Heterozygous		Asymptomatic	NA	Montefusco et al 2003
301	NA	N	NA	2	NA	2	NA	Heterozygous	c.6182G>A (p.Cys2061Tyr)	Moderate	abdominal blood stagnation and haematoma following vitamin K injection at birth	Paraboschi et al 2020
302	NA	N	NA	low	NA	low	NA	Not reported		NA	NA	Cao et al 2008
442	NA	F	NA	1	NA	NA	NA	Heterozygous	c.3510_3511delAA (p.Ile1170Metfs*10)	Moderate	recurrent epistaxis; menorrhagia; haemoperitoneum	Coppola et al 2010
649	NA	M	NA	0	NA	5	NA	Heterozygous	c.5521G>A (p.Val1841Met)	Severe	easy bruising and epistaxis	Montefusco et al 2003
730	NA	N	NA	2	NA	2	NA	Heterozygous	c.6182G>A (p.Cys2061Tyr)	Moderate	abdominal blood stagnation and haematoma following vitamin K injection at birth	Paraboschi et al 2020

Structural Interpretation:

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

c.2222A>G

p.Asn741Ser (Legacy AA No. 713)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

2222A>G

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

440

Allele Number *:

282552

Allele Frequency *:

0.001557

References and Comments:

NCBI Clinvar Variation ID: 293621
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
303	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293621
304	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293621
305	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293621
306	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293621

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.2223C>A

p.Asn741Lys (Legacy AA No. 713)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

2223C>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

282546

Allele Frequency *:

0.00005

References and Comments:

NCBI Clinvar Variation ID: 1176518
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
307	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1176518

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.2232G>C

p.Leu744Phe (Legacy AA No. 716)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

2232G>C

No. of Patients Reported:

Phenotype:

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Baz et al 2021
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
308	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	Baz et al 2021
309	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1098463

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.2234A>G

p.Asn745Ser (Legacy AA No. 717)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

2234A>G

No. of Patients Reported:

Phenotype:

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Baz et al 2021
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
310	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	Baz et al 2021
311	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1098462

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.2235T>C

p.Asn745Asn (Legacy AA No. 717)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Silent

Codon Change:

2235T>C

No. of Patients Reported:

Phenotype:

Association:

thrombosis

Allele Count *:

77253

Allele Number *:

282508

Allele Frequency *:

0.273454

References and Comments:

Kostka 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
312	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	Kostka et al 2000

Structural Interpretation:

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

c.2257C>A

p.Leu753Ile (Legacy AA No. 725)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

2257C>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

251154

Allele Frequency *:

0.00002

References and Comments:

NCBI Clinvar Variation ID: 1312444
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
313	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1312444

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.2289A>G

p.Glu763Glu (Legacy AA No. 735)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Silent

Codon Change:

2289A>G

No. of Patients Reported:

Phenotype:

Association:

thrombosis

Allele Count *:

18225

Allele Number *:

282572

Allele Frequency *:

0.064497

References and Comments:

Kostka 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
314	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	Kostka et al 2000

Structural Interpretation:

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

c.2301A>G

p.Ser767Ser (Legacy AA No. 739)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Silent

Codon Change:

2301A>G

No. of Patients Reported:

Phenotype:

Association:

thrombosis

Allele Count *:

77248

Allele Number *:

282526

Allele Frequency *:

0.273419

References and Comments:

Kostka 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
315	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	Kostka et al 2000

Structural Interpretation:

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

c.2339C>T

p.Pro780Leu (Legacy AA No. 752)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

2339C>T

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

282626

Allele Frequency *:

0.000244

References and Comments:

NCBI Clinvar Variation ID: 806274
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
316	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 806274

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.2345A>C

p.Asn782Thr (Legacy AA No. 754)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

2345A>C

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

NCBI Clinvar Variation ID: 1313877
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
317	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1313877

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.2350A>G

p.Ser784Gly (Legacy AA No. 756)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

2350A>G

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Kuang et al 2001
bruising, epistaxis, significant bleeding after 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
318	NA	M	NA	111	NA	NA	NA	Heterozygous		Asymptomatic	bruising, epistaxis, significant bleeding after trauma	Kuang et al 2001
319	NA	B	NA	100	NA	NA	NA	Heterozygous		Asymptomatic	bruising, epistaxis, bleeding from gums, and significant bleeding after minor trauma; causative splice variant short FV	Vincent et al 2013

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.2383C>G

p.Gln795Glu (Legacy AA No. 767)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

2383C>G

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

282718

Allele Frequency *:

0.000279

References and Comments:

NCBI Clinvar Variation ID: 727136
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
320	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 727136

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.2390_2390delC

p.Pro798Leufs*13 (Legacy AA No. 770)

Mutation Type:

Deletion

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Frameshift

Codon Change:

2390delC

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Deng et al 2021
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
321	NA	N	NA	24	NA	28	NA	NA	Asymptomatic	NA	Deng et al 2021
322	NA	N	NA	59	NA	62	NA	NA	Asymptomatic	NA	Deng et al 2021
323	NA	N	NA	58	NA	60	NA	NA	Asymptomatic	NA	Deng et al 2021

Structural Interpretation:

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

c.2401C>T

p.Gln801* (Legacy AA No. 773)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Nonsense

Codon Change:

2401C>T

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

31394

Allele Frequency *:

0.000064

References and Comments:

van Wijk et al 2001A
age 15

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
324	NA	F	NA	<1	NA	NA	NA	Homozygous		Severe	age 15	van Wijk et al 2001A
325	NA	F	NA	1	NA	3	NA	Homozygous		Moderate	bleeding after dental work, nosebleeds, haematomas of the skin after minor trauma	Vellinga et al 2006

Structural Interpretation:

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

c.2404C>T

p.Gln802* (Legacy AA No. 774)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Nonsense

Codon Change:

2404C>T

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

282730

Allele Frequency *:

0.000011

References and Comments:

Paraboschi et al 2020
Severe 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
326	NA	N	NA	<1	NA	NA	NA	Homozygous		Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020

Structural Interpretation:

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

c.2425C>T

p.Pro809Ser (Legacy AA No. 781)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

2425C>T

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

2280

Allele Number *:

282716

Allele Frequency *:

0.008065

References and Comments:

NCBI Clinvar Variation ID: 255198
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
327	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 255198
328	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 255198
329	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 255198
330	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 255198
331	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 255198

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.2426delC

p.Pro809Hisfs*2 (Legacy AA No. 781)

Mutation Type:

Deletion

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Frameshift

Codon Change:

2426delC

No. of Patients Reported:

Phenotype:

Mild

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Park et al 2019
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
27	NA	M	NA	7	NA	NA	NA	Heterozygous	c.286G>C (p.Asp96His)	Mild	avascular necrosis of femoral heads needing surgery (FFP prophylaxis)	Park et al 2019
332	NA	M	NA	7	NA	NA	NA	Heterozygous	c.286G>C (p.Asp96His)	Mild	NA	Park et al 2019

Structural Interpretation:

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

c.2434C>T

p.His812Tyr (Legacy AA No. 784)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

2434C>T

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

251286

Allele Frequency *:

0.000004

References and Comments:

NCBI Clinvar Variation ID: 806273
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
333	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 806273

Structural Interpretation:

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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).

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Structural Interpretation:

UNIQUE (Without Patient Data) :

EXCEL/CSV

TABULAR

MULTIPLE (With Patient Data) :

EXCEL/CSV

TABULAR