Factor V Variant Database

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UNIQUE (Without Patient Data) :

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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.2450A>C

p.Asn817Thr (Legacy AA No. 789)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

2450A>C

No. of Patients Reported:

Phenotype:

Association:

thrombosis

Allele Count *:

18226

Allele Number *:

282618

Allele Frequency *:

0.06449

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
334	NA	N	NA	NA	NA	NA	NA	Heterozygous		NA	NA	Kostka et al 2000

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.2539delA

p.Ile847Tyrfs*24 (Legacy AA No. 819)

Mutation Type:

Deletion

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Frameshift

Codon Change:

2539delA

No. of Patients Reported:

Phenotype:

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
335	NA	F	NA	NA	NA	NA	NA	Heterozygous	c.3170_3174delACACA (p.Asp1057Ilefs*7)	NA	NA	Delev et al 2009
400	NA	F	NA	NA	NA	NA	NA	Heterozygous	c.3170_3174delACACA (p.Asp1057Ilefs*7)	NA	NA	Delev et al 2009

Structural Interpretation:

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

c.2573A>G

p.Lys858Arg (Legacy AA No. 830)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

2573A>G

No. of Patients Reported:

Phenotype:

Association:

thrombosis

Allele Count *:

77882

Allele Number *:

282240

Allele Frequency *:

0.275942

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
336	NA	N	NA	NA	NA	NA	NA	Heterozygous		NA	NA	Kostka et al 2000
337	NA	F	NA	NA	NA	NA	NA	Both		NA	NA	Smith et al 2007

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.2574_2575delAA

p.Gln860Argfs*4 (Legacy AA No. 832)

Mutation Type:

Deletion

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Frameshift

Codon Change:

2574_2575delAA

No. of Patients Reported:

Phenotype:

Association:

FV Deficiency

Allele Count *:

Allele Number *:

250880

Allele Frequency *:

0.000004

References and Comments:

Asselta et al 2006
gum, nose, and joint bleeds

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
338	NA	M	NA	NA	NA	2	NA	Homozygous		NA	gum, nose, and joint bleeds	Asselta et al 2006
339	NA	M	NA	NA	NA	2	NA	Homozygous		NA	NA	Asselta et al 2006

Structural Interpretation:

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

c.2588C>G

p.Ala863Gly (Legacy AA No. 835)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

2588C>G

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Amsterdam

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Cunha et al 2015
bleeding after minor trauma, surgical procedures and childbirth

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
340	NA	F	NA	122	NA	NA	NA	Heterozygous		Asymptomatic	bleeding after minor trauma, surgical procedures and childbirth	Cunha et al 2015
341	NA	M	NA	99	NA	NA	NA	Heterozygous		Asymptomatic	prolonged bleeding of the umbilical stump, easy bruising	Cunha et al 2015

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.2594A>G

p.His865Arg (Legacy AA No. 837)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

2594A>G

No. of Patients Reported:

Phenotype:

Association:

thrombosis

Allele Count *:

77168

Allele Number *:

282176

Allele Frequency *:

0.273475

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
342	NA	N	NA	NA	NA	NA	NA	Heterozygous		NA	NA	Kostka et al 2000

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.2615delG

p.Arg872Lysfs*12 (Legacy AA No. 844)

Mutation Type:

Deletion

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Frameshift

Codon Change:

2615delG

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Al-Numair et al 2019
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
343	NA	M	NA	<1	NA	NA	NA	Homozygous		Severe	epistaxis	Al-Numair et al 2019

Structural Interpretation:

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

c.2669T>C

p.Val890Ala (Legacy AA No. 862)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

2669T>C

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

250598

Allele Frequency *:

0.000008

References and Comments:

NCBI Clinvar Variation ID: 806272
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
344	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 806272

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.2743_2744delAC

p.Thr915Trpfs*14 (Legacy AA No. 887)

Mutation Type:

Deletion

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Frameshift

Codon Change:

2743_2744delAC

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Montefusco et al 2000A
age 2, severe GI bleeding, 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
345	NA	M	NA	<1	NA	<1	NA	Homozygous		Severe	age 2, severe GI bleeding, epistaxis	Montefusco et al 2000A
346	NA	F	NA	64	NA	85	NA	Heterozygous		Asymptomatic	NA	Montefusco et al 2000A

Structural Interpretation:

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

c.2744C>G

p.Thr915Ser (Legacy AA No. 887)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

2744C>G

No. of Patients Reported:

Phenotype:

Association:

thrombosis

Allele Count *:

3811

Allele Number *:

282368

Allele Frequency *:

0.013497

References and Comments:

Smith 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
347	NA	F	NA	NA	NA	NA	NA	Both		NA	NA	Smith et al 2007

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.2752C>T

p.Pro918Ser (Legacy AA No. 890)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

2752C>T

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

282358

Allele Frequency *:

0.000156

References and Comments:

NCBI Clinvar Variation ID: 1136361
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
348	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1136361

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.2772G>A

p.Trp924* (Legacy AA No. 896)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Nonsense

Codon Change:

2772G>A

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

251080

Allele Frequency *:

0.000004

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
349	NA	N	NA	36	NA	22	NA	Heterozygous		Asymptomatic	NA	Cutler et al 2010

Structural Interpretation:

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

c.2773A>G

p.Lys925Glu (Legacy AA No. 897)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

2773A>G

No. of Patients Reported:

Phenotype:

Association:

thrombosis

Allele Count *:

77214

Allele Number *:

282332

Allele Frequency *:

0.273487

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
350	NA	N	NA	NA	NA	NA	NA	Heterozygous		NA	NA	Kostka et al 2000

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.2806C>G

p.Gln936Glu (Legacy AA No. 908)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

2806C>G

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

282522

Allele Frequency *:

0.000074

References and Comments:

NCBI Clinvar Variation ID: 1148226
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
351	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1148226

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.2837G>T

p.Arg946Ile (Legacy AA No. 918)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

2837G>T

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
352	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	Baz et al 2021
353	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1098460

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.2841G>A

p.Trp947* (Legacy AA No. 919)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Nonsense

Codon Change:

2841G>A

No. of Patients Reported:

Phenotype:

Mild

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

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
354	NA	N	NA	7	NA	<1	NA	Homozygous		Mild	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020

Structural Interpretation:

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

c.2851delT

p.Ser951Leufs*8 (Legacy AA No. 923)

Mutation Type:

Deletion

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Frameshift

Codon Change:

2851delT

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Su 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
355	NA	N	NA	13	NA	17	NA	NA	Asymptomatic	NA	Su et al 2021
356	NA	N	NA	35	NA	42	NA	NA	Asymptomatic	NA	Su et al 2021
357	NA	N	NA	37	NA	46	NA	NA	Asymptomatic	NA	Su et al 2021
358	NA	N	NA	29	NA	35	NA	NA	Asymptomatic	NA	Su et al 2021
359	NA	N	NA	35	NA	41	NA	NA	Asymptomatic	NA	Su et al 2021

Structural Interpretation:

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

c.2851delT

p.Ser951Leufs*8 (Legacy AA No. 923)

Mutation Type:

Deletion

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Frameshift

Codon Change:

2851delT

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Su 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
355	NA	N	NA	13	NA	17	NA	NA	Asymptomatic	NA	Su et al 2021
356	NA	N	NA	35	NA	42	NA	NA	Asymptomatic	NA	Su et al 2021
357	NA	N	NA	37	NA	46	NA	NA	Asymptomatic	NA	Su et al 2021
358	NA	N	NA	29	NA	35	NA	NA	Asymptomatic	NA	Su et al 2021
359	NA	N	NA	35	NA	41	NA	NA	Asymptomatic	NA	Su et al 2021

Structural Interpretation:

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

c.2862delT

p.Ser955Alafs*4 (Legacy AA No. 927)

Mutation Type:

Deletion

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Frameshift

Codon Change:

2862delT

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

251108

Allele Frequency *:

0.000036

References and Comments:

Borhany et al 2019
postsurgical bleeding after removal of haemorrhagic cyst

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.1516_1518delTAC (p.Tyr506del)	Moderate	Severe bleeding	Jones et al 2007
361	NA	F	NA	<1	NA	NA	NA	Homozygous		Severe	postsurgical bleeding after removal of haemorrhagic cyst	Borhany et al 2019
362	NA	F	NA	<1	NA	NA	NA	Homozygous		Severe	menorrhagia, gum bleeding, joint pain	Borhany et al 2019
363	NA	M	NA	<1	NA	NA	NA	Homozygous		Severe	postsurgical bleeding after circumcision and bleeding after trauma; knee pain	Borhany et al 2019
364	NA	N	NA	3	NA	NA	NA	Homozygous		Moderate	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
365	NA	N	NA	13	NA	<1	NA	Homozygous		Asymptomatic	umbilical and intracranial hemorrhages (requiring blood transfusion) at birth	Paraboschi et al 2020
366	NA	N	NA	3	NA	NA	NA	Homozygous		Moderate	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
367	NA	N	NA	5	NA	NA	NA	Homozygous		Moderate	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
368	NA	M	NA	<1	NA	1	NA	Heterozygous	c.5403_5404insG (p.Ser1802Valfs*3)	Severe	subdural hematoma at birth; easy bruising and severe hematoma after intramuscular injections	Ajzner et al 2002
369	NA	M	NA	59	NA	62	NA	Heterozygous		Asymptomatic	NA	Ajzner et al 2002
370	NA	F	NA	55	NA	32	NA	Heterozygous		Asymptomatic	NA	Ajzner et al 2002
371	NA	M	NA	10	NA	NA	NA	Heterozygous	c.5693C>T (p.Thr1898Met)	Mild	haematoma; epistaxis	Delev et al 2009
372	NA	F	NA	50	NA	NA	NA	Heterozygous		Asymptomatic	haematoma; epistaxis	Delev et al 2009
373	NA	M	NA	2	NA	NA	NA	Heterozygous	c.1516_1518delTAC (p.Tyr506del)	Moderate	NA	Jones et al 2007
374	NA	M	NA	50	NA	NA	NA	Heterozygous		Asymptomatic	NA	Jones et al 2007
375	NA	N	NA	45	NA	NA	NA	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
376	NA	N	NA	47	NA	NA	NA	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
626	NA	M	NA	<1	NA	1	NA	Heterozygous	c.5403_5404insG (p.Ser1802Valfs*3)	Severe	subdural hematoma at birth; easy bruising	Ajzner et al 2002
670	NA	M	NA	10	NA	NA	NA	Heterozygous	c.5693C>T (p.Thr1898Met)	Mild	haematoma; epistaxis	Delev et al 2009

Structural Interpretation:

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

c.2864G>T

p.Ser955Ile (Legacy AA No. 927)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

2864G>T

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

282484

Allele Frequency *:

0.000198

References and Comments:

NCBI Clinvar Variation ID: 293618
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
377	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293618
378	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293618
379	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293618

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.2906A>G

p.Asn969Ser (Legacy AA No. 941)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

2906A>G

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

240

Allele Number *:

282476

Allele Frequency *:

0.00085

References and Comments:

NCBI Clinvar Variation ID: 293616
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
380	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293616
381	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293616
382	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293616

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.2923C>T

p.Pro975Ser (Legacy AA No. 947)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

2923C>T

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

NCBI Clinvar Variation ID: 1314611
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
383	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1314611

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.2938C>T

p.Arg980Cys (Legacy AA No. 952)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

2938C>T

No. of Patients Reported:

Phenotype:

Association:

FV Deficiency

Allele Count *:

Allele Number *:

282562

Allele Frequency *:

0.000124

References and Comments:

Huang 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
384	NA	N	NA	low	NA	low	NA	Homozygous	c.3409C>T (p.Gln1137*)	NA	NA	Huang et al 2010
385	NA	N	NA	low	NA	low	NA	Not reported		NA	NA	Cao et al 2008
419	NA	N	NA	low	NA	low	NA	Homozygous	c.3409C>T (p.Gln1137*)	NA	NA	Huang et al 2010

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.2939G>T

p.Arg980Leu (Legacy AA No. 952)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

2939G>T

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

167

Allele Number *:

282554

Allele Frequency *:

0.000591

References and Comments:

NCBI Clinvar Variation ID: 731270
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
386	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 731270

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.3037C>T

p.Gln1013* (Legacy AA No. 985)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Nonsense

Codon Change:

3037C>T

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

282572

Allele Frequency *:

0.000018

References and Comments:

Chapla et al 2011
bleeding after tooth extraction, easily bruised

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
387	NA	F	NA	<1	NA	NA	NA	Homozygous		Severe	bleeding after tooth extraction, easily bruised	Chapla et al 2011
388	NA	M	NA	<1	NA	NA	NA	Homozygous		Severe	extracranial haematoma at birth; bleeding from minor injuries	Chapla et al 2011

Structural Interpretation:

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

c.3088C>T

p.Arg1030* (Legacy AA No. 1002)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Nonsense

Codon Change:

3088C>T

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

281636

Allele Frequency *:

0.000099

References and Comments:

Delev et al 2009
severe bleeding, haematoma

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
177	NA	M	NA	0	NA	NA	NA	Heterozygous	c.1340C>G (p.Pro447Arg)	Severe	melaena, haemarthrosis	Borhany et al 2019
389	NA	M	NA	1	NA	NA	NA	Homozygous		Moderate	severe bleeding, haematoma	Delev et al 2009
390	NA	N	NA	2	NA	NA	NA	Homozygous		Moderate	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
391	NA	F	NA	<1	NA	<1	NA	Homozygous		Severe	subcutaneous and mucosal bleeding, severe menorrhagia	Schrijver et al 2005
392	NA	M	NA	<1	NA	NA	NA	Heterozygous	c.1340C>G (p.Pro447Arg)	Severe	melaena, haemarthrosis	Borhany et al 2019
393	NA	M	NA	<1	NA	<1	NA	Heterozygous	c.6048+1G>A	Severe	intracranial bleeding and severe hypertension	Dall'osso et al 2008
394	NA	F	NA	<1	NA	<1	NA	Heterozygous	6028_6032dupAACAG (p.Ser2011Argfs*7)	Severe	posttraumatic large frontal hematoma ; repeated traumatic hemorrhages requiring fresh-frozen plasma; severe menorrhagia requiring plasma and red blood cell transfusion	Montefusco et al 2003
395	NA	M	NA	37	NA	46	NA	Heterozygous		Asymptomatic	NA	Montefusco et al 2003
711	NA	F	NA	<1	NA	<1	NA	Heterozygous	6028_6032dupAACAG (p.Ser2011Argfs*7)	Severe	repeated traumatic hemorrhages requiring fresh-frozen plasma	Montefusco et al 2003
714	NA	M	NA	<1	NA	<1	NA	Heterozygous	c.6048+1G>A	Severe	intracranial bleeding with severe hypertension	Dall'osso et al 2008

Structural Interpretation:

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

c.3089G>A

p.Arg1030Gln (Legacy AA No. 1002)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

3089G>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

281636

Allele Frequency *:

0.000099

References and Comments:

NCBI Clinvar Variation ID: 874312
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
396	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 874312

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.3105_3106delGA

p.Lys1036Alafs*18 (Legacy AA No. 1008)

Mutation Type:

Deletion

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Frameshift

Codon Change:

3105_3106delGA

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

250816

Allele Frequency *:

0.000004

References and Comments:

Chapla et al 2011
umbilical stump bleeding, prolonged post-traumatic 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
397	NA	F	NA	<1	NA	NA	NA	Homozygous		Severe	umbilical stump bleeding, prolonged post-traumatic bleeding	Chapla et al 2011

Structural Interpretation:

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

c.3153_3154insCT

p.Arg1052Leufs*44 (Legacy AA No. 1024)

Mutation Type:

Insertion

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Frameshift

Codon Change:

3153_3154insCT

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

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
398	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 (Insertion | Frameshift) variant.

c.3162A>C

p.Glu1054Asp (Legacy AA No. 1026)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

3162A>C

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

172

Allele Number *:

282494

Allele Frequency *:

0.000609

References and Comments:

NCBI Clinvar Variation ID: 716054
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
399	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 716054

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.3170_3174delACACA

p.Asp1057Ilefs*7 (Legacy AA No. 1029)

Mutation Type:

Deletion

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Frameshift

Codon Change:

3170_3174delACACA

No. of Patients Reported:

Phenotype:

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
335	NA	F	NA	NA	NA	NA	NA	Heterozygous	c.2539delA (p.Ile847Tyrfs*24)	NA	NA	Delev et al 2009
400	NA	F	NA	NA	NA	NA	NA	Heterozygous	c.2539delA (p.Ile847Tyrfs*24)	NA	NA	Delev et al 2009

Structural Interpretation:

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

c.3187dupA

p.Arg1063fs (Legacy AA No. 1035)

Mutation Type:

Duplication

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Frameshift

Codon Change:

3187dupA

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

NCBI Clinvar Variation ID: 56159
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
401	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 56159

Structural Interpretation:

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

c.3211C>T

p.His1071Tyr (Legacy AA No. 1043)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

MIssense

Codon Change:

3211C>T

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

282666

Allele Frequency *:

0.000237

References and Comments:

NCBI Clinvar Variation ID: 293614
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
402	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293614
403	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293614

Structural Interpretation:

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

c.3221A>G

p.Asn1074Ser (Legacy AA No. 1046)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

3221A>G

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

251272

Allele Frequency *:

0.000135

References and Comments:

NCBI Clinvar Variation ID: 870845
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
404	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 870845
405	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 870845

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.3269A>G

p.Asp1090Gly (Legacy AA No. 1062)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

3269A>G

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

NCBI Clinvar Variation ID: 875183
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
406	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 875183

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.3279G>A

p.Trp1093* (Legacy AA No. 1065)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Nonsense

Codon Change:

3279G>A

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

251182

Allele Frequency *:

0.000004

References and Comments:

Bernal 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
407	NA	N	NA	21	NA	NA	NA	NA		Asymptomatic	NA	Bernal et al 2021
408	NA	N	NA	<1	NA	NA	NA	NA		Severe	NA	Bernal et al 2021

Structural Interpretation:

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

c.3296delA

p.Asp1099Alafs*72 (Legacy AA No. 1071)

Mutation Type:

Deletion

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Frameshift

Codon Change:

3296delA

No. of Patients Reported:

Phenotype:

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Asselta et al 2006
gum and nose bleeds

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
409	NA	M	NA	NA	NA	3	NA	Homozygous	NA	gum and nose bleeds	Asselta et al 2006
410	NA	M	NA	NA	NA	3	NA	Homozygous	NA	haematomas	Asselta et al 2006
411	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 (Deletion | Frameshift) variant.

c.3307A>T

p.Asn1103Tyr (Legacy AA No. 1075)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

3007A>T

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

NCBI Clinvar Variation ID: 293611
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
412	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293611
413	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293611

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.3311C>A

p.Ser1104Tyr (Legacy AA No. 1076)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

3311C>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

251138

Allele Frequency *:

0.000076

References and Comments:

NCBI Clinvar Variation ID: 293610
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
414	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293610
415	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293610

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.3402C>A

p.Asp1134Glu (Legacy AA No. 1106)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

3402C>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

251180

Allele Frequency *:

0.000386

References and Comments:

NCBI Clinvar Variation ID: 293609
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
416	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293609
417	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293609
418	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293609

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.3409C>T

p.Gln1137* (Legacy AA No. 1109)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Nonsense

Codon Change:

3409C>T

No. of Patients Reported:

Phenotype:

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Huang 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
384	NA	N	NA	low	NA	low	NA	Homozygous	c.2938C>T (p.Arg980Cys)	NA	NA	Huang et al 2010
419	NA	N	NA	low	NA	low	NA	Homozygous	c.2938C>T (p.Arg980Cys)	NA	NA	Huang et al 2010

Structural Interpretation:

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

c.3438C>G

p.His1146Gln (Legacy AA No. 1118)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

3438C>G

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

2153

Allele Number *:

282588

Allele Frequency *:

0.007619

References and Comments:

NCBI Clinvar Variation ID: 293608
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
420	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293608
421	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293608
422	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293608

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.3442T>C

p.Ser1148Pro (Legacy AA No. 1120)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

3442T>C

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

282600

Allele Frequency *:

0.000078

References and Comments:

NCBI Clinvar Variation ID: 293607
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
423	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293607
424	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293607
425	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293607

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.3446C>T

p.Ser1149Phe (Legacy AA No. 1121)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

3446C>T

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

282612

Allele Frequency *:

0.000159

References and Comments:

NCBI Clinvar Variation ID: 1091728
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
426	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1091728

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.3455A>C

p.Glu1152Ala (Legacy AA No. 1124)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

3455A>C

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

282664

Allele Frequency *:

0.000145

References and Comments:

NCBI Clinvar Variation ID: 293606
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
427	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293606
428	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293606
429	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293606

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.3472_3475delGAGT

p.Glu1158Metfs*12 (Legacy AA No. 1130)

Mutation Type:

Deletion

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Frameshift

Codon Change:

3472_3475delGAGT

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

31400

Allele Frequency *:

0.000032

References and Comments:

Schrijver et al 2005
deep-tissue haemorrhage with neck hematomas needing surgical intervention

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
430	NA	M	NA	<1	NA	9	NA	Homozygous		Severe	deep-tissue haemorrhage with neck hematomas needing surgical intervention	Schrijver et al 2005

Structural Interpretation:

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

c.3481C>T

p.Arg1161* (Legacy AA No. 1133)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Nonsense

Codon Change:

3481C>T

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

251326

Allele Frequency *:

0.000012

References and Comments:

Delev et al 2009
haematoma

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
205	NA	F	NA	<1	NA	<1	NA	Homozygous	c.1601G>A (p.Arg534Gln)	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.1601G>A (p.Arg534Gln)	Severe	homozygous for FV Leiden, but nonsense variant in cis rescues	van Wijk et al 2001B
431	NA	F	NA	1	NA	NA	NA	Homozygous		Moderate	haematoma	Delev et al 2009
432	NA	F	NA	1	NA	NA	NA	Homozygous		Moderate	haematoma	Delev et al 2009
433	NA	N	NA	<1	NA	NA	NA	Homozygous		Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
434	NA	F	NA	<1	NA	<1	NA	Homozygous	c.1601G>A (p.Arg534Gln)	Severe	NA	van Wijk et al 2001B
435	NA	M	NA	<1	NA	<1	NA	Homozygous	c.1601G>A (p.Arg534Gln)	Severe	NA	van Wijk et al 2001B
436	NA	N	NA	<1	NA	<1	NA	Heterozygous	c.3924_3927delTCAG (p.Ser1308Argfs*24)	Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
437	NA	N	NA	50	NA	45	NA	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
438	NA	M	NA	4	NA	3	NA	Heterozygous	c.6027_6032delGAACAG (p.Asn2010_Ser2011del)	Moderate	prolonged bleeding after tooth extraction	Song et al 2009
439	NA	M	NA	5	NA	NA	NA	Heterozygous	c.6027_6032delGAACAG (p.Asn2010_Ser2011del)	Moderate	bleeding after tooth extraction	Song et al 2009
440	NA	F	NA	45	NA	25	NA	Heterozygous		Asymptomatic	NA	Song et al 2009
441	NA	N	NA	low	NA	low	NA	Not reported		NA	NA	Cao et al 2008
469	NA	N	NA	<1	NA	<1	NA	Heterozygous	c.3924_3927delTCAG (p.Ser1308Argfs*24)	Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
708	NA	M	NA	5	NA	NA	NA	Heterozygous	c.6027_6032delGAACAG (p.Asn2010_Ser2011del)	Moderate	bleeding after tooth extraction	Song et al 2009
710	NA	M	NA	4	NA	3	NA	Heterozygous	c.6027_6032delGAACAG (p.Asn2010_Ser2011del)	Moderate	prolonged bleeding after tooth extraction	Song et al 2009

Structural Interpretation:

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

c.3510_3511delAA

p.Ile1170Metfs*10 (Legacy AA No. 1142)

Mutation Type:

Deletion

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Frameshift

Codon Change:

3510_3511delAA

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Coppola et al 2010
recurrent epistaxis; menorrhagia; haemoperitoneum

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
295	NA	F	NA	1	NA	NA	NA	Heterozygous	c.2218C>T (p.Arg740*)	Moderate	recurrent epistaxis; menorrhagia	Coppola et al 2010
442	NA	F	NA	1	NA	NA	NA	Heterozygous	c.2218C>T (p.Arg740*)	Moderate	recurrent epistaxis; menorrhagia; haemoperitoneum	Coppola et al 2010
443	NA	M	NA	NA	NA	NA	NA	Heterozygous		NA	NA	Coppola et al 2010

Structural Interpretation:

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

c.3576delG

p.Val1193* (Legacy AA No. 1165)

Mutation Type:

Deletion

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Nonsense

Codon Change:

3576delG

No. of Patients Reported:

Phenotype:

Association:

FV Deficiency

Allele Count *:

Allele Number *:

250976

Allele Frequency *:

0.000004

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
444	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	Baz et al 2021

Structural Interpretation:

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

c.3615_3616dupTC

p.Pro1206Leufs*47 (Legacy AA No. 1178)

Mutation Type:

Duplication

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Frameshift

Codon Change:

3615_3616dupTC

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

thrombosis

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Castoldi et al 1998
pseudo-homozygous APC resistance

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
215	NA	F	NA	42	NA	54	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	pseudo-homozygous APC resistance	Castoldi et al 1998
233	NA	N	NA	50	NA	60	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	VTE	Simioni et al 2005
445	NA	F	NA	42	NA	54	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	pseudo-homozygous APC resistance	Castoldi et al 1998
446	NA	N	NA	50	NA	60	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	VTE	Simioni et al 2005

Structural Interpretation:

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

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Factor X Variant Database

Factor V Gene (F5)

Variant Database

Data Export Options:

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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