Factor V Variant Database

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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 .

delexon1-25

NA (Legacy AA No. NA)

Mutation Type:

Deletion

Domain:

Multiple Domains

Location:

Exon 1-25

Mutation Effect:

Large Deletion

Codon Change:

delexon1-25

No. of Patients Reported:

Phenotype:

Mild

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Caudill et al 2007
deletion of entire F5 gene

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
1	NA	F	NA	9	NA	NA	NA	Heterozygous	c.785C>G (p.Ser262Trp)	Mild	deletion of entire F5 gene	Caudill et al 2007
97	NA	F	NA	9	NA	NA	NA	Heterozygous	c.785C>G (p.Ser262Trp)	Mild	NA	Caudill et al 2007

Structural Interpretation:

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

delexon1-7

NA (Legacy AA No. NA)

Mutation Type:

Deletion

Domain:

Multiple Domains

Location:

Exon 1-7

Mutation Effect:

Large Deletion

Codon Change:

delexon1-7

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Guella et al 2011
heel pricks and prolonged bleeding, circumcision caused bleeding, bleeding that required a transfusion with blood and fresh-frozen plasma (day 2)

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	c.1975+5G>Ac.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	c.1975+5G>Ac.3980A>G (p.His1327Arg)	Moderate	bleeding post circumcision, bleeding from umbilical venous catheter that required fresh-frozen plasma	Guella et al 2011
3	NA	F	NA	NA	NA	NA	NA	Heterozygous		NA	NA	Guella et al 2011
484	NA	M	NA	1	NA	NA	NA	Heterozygous	c.1975+5G>Ac.3980A>G (p.His1327Arg)	Moderate	NA	Guella et al 2011

Structural Interpretation:

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

c.43G>A

p.Gly15Ser (Legacy AA No. -13)

Mutation Type:

Point

Domain:

Signal Peptide

Location:

Exon 1

Mutation Effect:

Missense

Codon Change:

43G>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

1735

Allele Number *:

282320

Allele Frequency *:

0.006146

References and Comments:

NCBI Clinvar Variation ID: 293644
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
4	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293644
5	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293644
6	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293644

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.44G>A

p.Gly15Asp (Legacy AA No. -13)

Mutation Type:

Point

Domain:

Signal Peptide

Location:

Exon 1

Mutation Effect:

Missense

Codon Change:

44G>A

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Paraboschi et al 2020
>13% FV:C; major bleeding events not observed

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
7	NA	N	NA	60	NA	55	NA	Heterozygous		Asymptomatic	>13% FV:C; major bleeding events not observed	Paraboschi et al 2020

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.106G>A

p.Val36Met (Legacy AA No. 8)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 1

Mutation Effect:

Missense

Codon Change:

106G>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

129

Allele Number *:

281924

Allele Frequency *:

0.000458

References and Comments:

NCBI Clinvar Variation ID: 710594
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
8	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 710594

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.158+1G>A

NA (Legacy AA No. NA)

Mutation Type:

Point

Domain:

Intron

Location:

Intron 1

Mutation Effect:

Intronic

Codon Change:

158+1G>A

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Bafunno et al 2012
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
10	NA	F	NA	59	NA	NA	NA	Heterozygous	c.5789G>A (p.Gly1930Asp)	Asymptomatic	NA	Bafunno et al 2012
11	NA	F	NA	3	NA	2	NA	Heterozygous	c.5789G>A (p.Gly1930Asp)c.6528G>C (p.Lys2176Asn)	Moderate	ecchymoses; surgery for cyst removal on knee resulting in post-surgery bleeding and consequent anaemia (no treatment used); two pregnancies, both with premature delivery, and in one case post-delivery bleeding (two days after the event; no treatment)	Paraboschi et al 2019
12	NA	F	NA	55	NA	53	NA	Heterozygous	c.5789G>A (p.Gly1930Asp)	Asymptomatic	antifibrinolytic treatment required following implantology surgery	Paraboschi et al 2019
684	NA	M	NA	0	NA	NA	NA	Heterozygous	c.5789G>A (p.Gly1930Asp)c.6212G>T (p.Gly2071Val)	Severe	recurrent epistaxis	Bafunno et al 2012
685	NA	F	NA	59	NA	NA	NA	Heterozygous	c.5789G>A (p.Gly1930Asp)	Asymptomatic	NA	Bafunno et al 2012
686	NA	F	NA	3	NA	2	NA	Heterozygous	c.5789G>A (p.Gly1930Asp)c.6528G>C (p.Lys2176Asn)	Moderate	knee cyst removal caused bleeding and anaemia (no treatment used); two premature pregnancies	Paraboschi et al 2019
687	NA	F	NA	55	NA	53	NA	Heterozygous	c.5789G>A (p.Gly1930Asp)	Asymptomatic	NA	Paraboschi et al 2019
732	NA	M	NA	0	NA	NA	NA	Heterozygous	c.5789G>A (p.Gly1930Asp)c.6212G>T (p.Gly2071Val)	Severe	recurrent epistaxis	Bafunno et al 2012
781	NA	F	NA	3	NA	2	NA	Heterozygous	c.5789G>A (p.Gly1930Asp)c.6528G>C (p.Lys2176Asn)	Moderate	knee cyst removal on knee resulting in post-surgery bleeding and consequent anaemia (no treatment used); two premature pregnancies	Paraboschi et al 2019
9	NA	M	NA	<1	NA	NA	NA	Heterozygous	c.5789G>A (p.Gly1930Asp)c.6212G>T (p.Gly2071Val)	Severe	recurrent epistaxis	Bafunno et al 2012

Structural Interpretation:

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

c.250+1G>A

NA (Legacy AA No. NA)

Mutation Type:

Point

Domain:

Intron

Location:

Intron 2

Mutation Effect:

Intronic

Codon Change:

250+1G>A

No. of Patients Reported:

Phenotype:

Asymptomatic

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
13	NA	N	NA	30	NA	NA	NA	Heterozygous		Asymptomatic	NA	Cutler et al 2010

Structural Interpretation:

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

c.269T>C

p.Leu90Ser (Legacy AA No. 62)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 3

Mutation Effect:

Missense

Codon Change:

269T>C

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Cutler et al 2010
postoperative and postpartum 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
14	NA	F	NA	43	NA	NA	NA	Heterozygous		Asymptomatic	postoperative and postpartum bleeding	Cutler et al 2010

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.271T>A

p.Tyr91Asn (Legacy AA No. 63)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 3

Mutation Effect:

Missense

Codon Change:

271T>A

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Delev et al 2009
bleeding after invasive procedure, epistaxis; 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
15	NA	M	NA	51	NA	NA	NA	Heterozygous		Asymptomatic	bleeding after invasive procedure, epistaxis; haematoma	Delev et al 2009

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.281T>C

p.Val94Ala (Legacy AA No. 66)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 3

Mutation Effect:

Missense

Codon Change:

281T>C

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

250870

Allele Frequency *:

0.000008

References and Comments:

NCBI Clinvar Variation ID: 874767
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
16	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 874767

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.283G>A

p.Gly95Arg (Legacy AA No. 67)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 3

Mutation Effect:

Missense

Codon Change:

283G>A

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

282258

Allele Frequency *:

0.000032

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
17	NA	F	NA	40	NA	NA	NA	Heterozygous		Asymptomatic	haematoma	Delev et al 2009

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.286G>C

p.Asp96His (Legacy AA No. 68)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 3

Mutation Effect:

Missense

Codon Change:

286G>C

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

282272

Allele Frequency *:

0.000078

References and Comments:

Cao et al 2011
bleeding during teeth regeneration prolonged

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
18	NA	M	NA	5	NA	6	NA	Homozygous		Moderate	bleeding during teeth regeneration prolonged	Cao et al 2011
19	NA	M	NA	49	NA	85	NA	Heterozygous		Asymptomatic	NA	Cao et al 2011
20	NA	F	NA	63	NA	85	NA	Heterozygous		Asymptomatic	NA	Cao et al 2011
21	NA	N	NA	low	NA	low	NA	Heterozygous		NA	NA	Huang et al 2010
22	NA	F	NA	2	NA	<2	NA	Heterozygous	c.524A>G (p.His175Arg)c.6304C>T (p.Arg2102Cys)	Moderate	tooth extraction caused severe and prolonged bleeding	Liu et al 2014A
23	NA	F	NA	2	NA	<2	NA	Heterozygous	c.524A>G (p.His175Arg)c.6304C>T (p.Arg2102Cys)	Moderate	NA	Liu et al 2014A
24	NA	M	NA	66	NA	70	NA	Heterozygous		Asymptomatic	NA	Liu et al 2014A
25	NA	F	NA	41	NA	NA	NA	Heterozygous		Asymptomatic	haematuria, menorrhagia	Park et al 2016
26	NA	F	NA	44	NA	NA	NA	Heterozygous		Asymptomatic	NA	Park et al 2016
27	NA	M	NA	7	NA	NA	NA	Heterozygous	c.2426delC (p.Pro809Hisfs*2)	Mild	avascular necrosis of femoral heads needing surgery (FFP prophylaxis)	Park et al 2019
28	NA	N	NA	low	NA	low	NA	Not reported		NA	NA	Cao et al 2008
332	NA	M	NA	7	NA	NA	NA	Heterozygous	c.2426delC (p.Pro809Hisfs*2)	Mild	NA	Park et al 2019
58	NA	F	NA	2	NA	<2	NA	Heterozygous	c.524A>G (p.His175Arg)c.6304C>T (p.Arg2102Cys)	Moderate	tooth extraction caused severe and prolonged bleeding	Liu et al 2014A
59	NA	F	NA	2	NA	<2	NA	Heterozygous	c.524A>G (p.His175Arg)c.6304C>T (p.Arg2102Cys)	Moderate	NA	Liu et al 2014A
745	NA	F	NA	2	NA	<2	NA	Heterozygous	c.524A>G (p.His175Arg)c.6304C>T (p.Arg2102Cys)	Moderate	prolonged and excessive bleeding after a tooth extraction	Liu et al 2014A
746	NA	F	NA	2	NA	<2	NA	Heterozygous	c.524A>G (p.His175Arg)c.6304C>T (p.Arg2102Cys)	Moderate	NA	Liu et al 2014A

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.319G>C

p.Asp107His (Legacy AA No. 79)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 3

Mutation Effect:

Missense

Codon Change:

319G>C

No. of Patients Reported:

Phenotype:

Association:

thrombosis

Allele Count *:

19726

Allele Number *:

282020

Allele Frequency *:

0.069945

References and Comments:

Bossone 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	Severity	Comments	Reference
29	NA	N	NA	NA	NA	NA	NA	Heterozygous	NA	NA	Bossone et al 2003
30	NA	N	NA	NA	NA	NA	NA	Both	NA	NA	Lunghi et al 2005A
31	NA	N	NA	NA	NA	NA	NA	Heterozygous	NA	NA	van der Neut Kolfschoten et al 2004

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.320A>G

p.Asp107Gly (Legacy AA No. 79)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 3

Mutation Effect:

Missense

Codon Change:

320A>G

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) but no major bleeding episodes reported

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
32	NA	N	NA	0	NA	<1	NA	Homozygous		Severe	Severe FV deficiency (<13% FV:C) but no major bleeding episodes reported	Paraboschi et al 2020

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.333C>A

p.Ser111Arg (Legacy AA No. 83)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 3

Mutation Effect:

Missense

Codon Change:

333C>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

NCBI Clinvar Variation ID: 626955
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
33	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 626955

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.355T>A

p.Tyr119Asn (Legacy AA No. 91)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 3

Mutation Effect:

Missense

Codon Change:

355T>A

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

250208

Allele Frequency *:

0.000004

References and Comments:

Delev et al 2008
muscle haematoma and one bleeding episode after 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
34	NA	F	NA	51	NA	NA	NA	Heterozygous		Asymptomatic	muscle haematoma and one bleeding episode after delivery	Delev et al 2008

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.358A>G

p.Ser120Gly (Legacy AA No. 92)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 3

Mutation Effect:

Missense

Codon Change:

358A>G

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

NCBI Clinvar Variation ID: 626961
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
35	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 626961

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.373+2T>C

NA (Legacy AA No. NA)

Mutation Type:

Point

Domain:

Intron

Location:

Intron 3

Mutation Effect:

Intronic

Codon Change:

373+2T>C

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Nuzzo et al 2017
intracranial haemorrhages even with FFP treatment and prophylaxis

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
36	NA	F	NA	<1	NA	2	NA	Homozygous	Severe	intracranial haemorrhages even with FFP treatment and prophylaxis	Nuzzo et al 2017
37	NA	F	NA	33	NA	48	NA	Heterozygous	Asymptomatic	NA	Nuzzo et al 2017
38	NA	M	NA	37	NA	27	NA	Heterozygous	Asymptomatic	NA	Nuzzo et al 2017
39	NA	F	NA	26	NA	28	NA	Heterozygous	Asymptomatic	NA	Nuzzo et al 2017

Structural Interpretation:

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

c.374G>A

p.Gly125Asp (Legacy AA No. 97)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 4

Mutation Effect:

Missense

Codon Change:

374G>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

251056

Allele Frequency *:

0.000024

References and Comments:

NCBI Clinvar Variation ID: 873809
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
40	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 873809

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.405NA

p.Ala135Ala (Legacy AA No. 107)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 4

Mutation Effect:

Silent

Codon Change:

405NA

No. of Patients Reported:

Phenotype:

Association:

FV Deficiency

Allele Count *:

74500

Allele Number *:

282538

Allele Frequency *:

0.263681

References and Comments:

Janicki et al 2013
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
41	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	Janicki et al 2013
42	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	Janicki et al 2013
43	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	Janicki et al 2013
44	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	Janicki et al 2013

Structural Interpretation:

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

c.430C>A

p.Pro144Thr (Legacy AA No. 116)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 4

Mutation Effect:

Missense

Codon Change:

430C>A

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
45	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.434G>A

p.Gly145Asp (Legacy AA No. 117)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 4

Mutation Effect:

Missense

Codon Change:

434G>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

251334

Allele Frequency *:

0.000016

References and Comments:

NCBI Clinvar Variation ID: 1312861
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
48	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1312861

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.434delG

p.Gly145Alafs*34 (Legacy AA No. 117)

Mutation Type:

Deletion

Domain:

d5A1

Location:

Exon 4

Mutation Effect:

Frameshift

Codon Change:

434delG

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Traynis et al 2006
FVII deficiency (38% FVII:C) with paternal inheritance; microscopic haematuria

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
46	NA	F	NA	45	NA	NA	NA	Heterozygous		Asymptomatic	FVII deficiency (38% FVII:C) with paternal inheritance; microscopic haematuria	Traynis et al 2006
47	NA	F	NA	42	NA	NA	NA	Heterozygous		Asymptomatic	mild epistaxis and gingival bleeding	Traynis et al 2006

Structural Interpretation:

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

c.437G>A

p.Arg146Gln (Legacy AA No. 118)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 4

Mutation Effect:

Missense

Codon Change:

437G>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

282724

Allele Frequency *:

0.00011

References and Comments:

NCBI Clinvar Variation ID: 293640
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
49	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293640
50	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293640

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.439G>T

p.Glu147* (Legacy AA No. 119)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 4

Mutation Effect:

Nonsense

Codon Change:

439G>T

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.1160T>C (p.Ile387Thr)	Asymptomatic	NA	Mumford et al 2003
139	NA	M	NA	35	NA	NA	NA	Heterozygous	c.1160T>C (p.Ile387Thr)	Asymptomatic	thrombosis even with warfarin therapy; APC resistance	Mumford et al 2003
51	NA	M	NA	48	NA	NA	NA	Heterozygous		Asymptomatic	NA	Mumford et al 2003
52	NA	M	NA	47	NA	NA	NA	Heterozygous		Asymptomatic	NA	Mumford et al 2003
53	NA	M	NA	39	NA	NA	NA	Heterozygous	c.1160T>C (p.Ile387Thr)	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.1160T>C (p.Ile387Thr)	Asymptomatic	thrombosis even with warfarin therapy; APC resistance	Mumford et al 2003
55	NA	M	NA	36	NA	NA	NA	Heterozygous		Asymptomatic	NA	Mumford et al 2003

Structural Interpretation:

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

c.479C>G

p.Pro160Arg (Legacy AA No. 132)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 4

Mutation Effect:

Missense

Codon Change:

479C>G

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Paraboschi et al 2012
GI bleeding following birth treated with fresh-frozen plasma; heterozygous for p.Met2148Thr

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
56	NA	M	NA	0	NA	<1	NA	Heterozygous	c.5752delA (p.Ile1918Tyrfs*19)	Severe	GI bleeding following birth treated with fresh-frozen plasma; heterozygous for p.Met2148Thr	Paraboschi et al 2012
57	NA	M	NA	53	NA	61	NA	Heterozygous		Asymptomatic	NA	Paraboschi et al 2012
674	NA	M	NA	<1	NA	<1	NA	Heterozygous	c.5752delA (p.Ile1918Tyrfs*19)	Severe	GI bleeding after birth requiring fresh-frozen plasma; heterozygous for p.Met2148Thr	Paraboschi et al 2012

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.524A>G

p.His175Arg (Legacy AA No. 147)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 4

Mutation Effect:

Missense

Codon Change:

524A>G

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

282760

Allele Frequency *:

0.000332

References and Comments:

Liu et al 2014A
tooth extraction caused severe and prolonged 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
22	NA	F	NA	2	NA	<2	NA	Heterozygous	c.286G>C (p.Asp96His)c.6304C>T (p.Arg2102Cys)	Moderate	tooth extraction caused severe and prolonged bleeding	Liu et al 2014A
23	NA	F	NA	2	NA	<2	NA	Heterozygous	c.286G>C (p.Asp96His)c.6304C>T (p.Arg2102Cys)	Moderate	NA	Liu et al 2014A
58	NA	F	NA	2	NA	<2	NA	Heterozygous	c.286G>C (p.Asp96His)c.6304C>T (p.Arg2102Cys)	Moderate	tooth extraction caused severe and prolonged bleeding	Liu et al 2014A
59	NA	F	NA	2	NA	<2	NA	Heterozygous	c.286G>C (p.Asp96His)c.6304C>T (p.Arg2102Cys)	Moderate	NA	Liu et al 2014A
60	NA	F	NA	60	NA	75	NA	Heterozygous	c.6304C>T (p.Arg2102Cys)	Asymptomatic	NA	Liu et al 2014A
744	NA	F	NA	60	NA	75	NA	Heterozygous	c.6304C>T (p.Arg2102Cys)	Asymptomatic	NA	Liu et al 2014A
745	NA	F	NA	2	NA	<2	NA	Heterozygous	c.286G>C (p.Asp96His)c.6304C>T (p.Arg2102Cys)	Moderate	prolonged and excessive bleeding after a tooth extraction	Liu et al 2014A
746	NA	F	NA	2	NA	<2	NA	Heterozygous	c.286G>C (p.Asp96His)c.6304C>T (p.Arg2102Cys)	Moderate	NA	Liu et al 2014A

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.538G>A

p.Glu180Lys (Legacy AA No. 152)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 4

Mutation Effect:

Missense

Codon Change:

538G>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

251376

Allele Frequency *:

0.000008

References and Comments:

NCBI Clinvar Variation ID: 293638
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
61	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293638
62	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293638

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.552NA

p.Ser184Ser (Legacy AA No. 156)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 4

Mutation Effect:

Silent

Codon Change:

552NA

No. of Patients Reported:

Phenotype:

Association:

FV Deficiency

Allele Count *:

76222

Allele Number *:

282662

Allele Frequency *:

0.269658

References and Comments:

Janicki et al 2013
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
63	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	Janicki et al 2013
64	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	Janicki et al 2013
65	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	Janicki et al 2013
66	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	Janicki et al 2013

Structural Interpretation:

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

c.566C>T

p.Pro189Leu (Legacy AA No. 161)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 4

Mutation Effect:

Missense

Codon Change:

566C>T

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

282760

Allele Frequency *:

0.000103

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
67	NA	F	NA	44	NA	NA	NA	Heterozygous		Asymptomatic	mild menorrhagia	Al-Numair et al 2019

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.578G>C

p.Cys193Ser (Legacy AA No. 165)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 4

Mutation Effect:

Missense

Codon Change:

578G>C

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

251296

Allele Frequency *:

0.000004

References and Comments:

Nuzzo et al 2015A
muscle caused 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.1281C>G (p.Val427Val)	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.1281C>G (p.Val427Val)	Severe	muscle caused by mild trauma needing fresh frozen plasma treatment	Nuzzo et al 2015A

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.585delA

p.Thr197Profs*2 (Legacy AA No. 169)

Mutation Type:

Deletion

Domain:

d5A1

Location:

Exon 4

Mutation Effect:

Frameshift

Codon Change:

585delA

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Hou 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
69	NA	F	NA	1	NA	2	NA	Heterozygous		Moderate	NA	Hou et al 2003

Structural Interpretation:

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

c.601_678dup

p.Gly201_Gln226dup (Legacy AA No. 173)

Mutation Type:

Duplication

Domain:

d5A1

Location:

Exon 5

Mutation Effect:

Inframe

Codon Change:

601_678dup

No. of Patients Reported:

Phenotype:

Asymptomatic

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
70	NA	N	NA	41	NA	NA	NA	Heterozygous		Asymptomatic	NA	Cutler et al 2010

Structural Interpretation:

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

c.628C>A

p.Gln210Lys (Legacy AA No. 182)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 5

Mutation Effect:

Missense

Codon Change:

628C>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

282576

Allele Frequency *:

0.000226

References and Comments:

NCBI Clinvar Variation ID: 875606
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
71	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 875606
72	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 875606

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.647C>T

p.Ala216Val (Legacy AA No. 188)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 5

Mutation Effect:

Missense

Codon Change:

647C>T

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

251168

Allele Frequency *:

0.000004

References and Comments:

Delev et al 2009
invasive procedure caused 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
73	NA	F	NA	15	NA	NA	NA	Homozygous		Asymptomatic	invasive procedure caused bleeding	Delev et al 2009

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.653T>C

p.Phe218Ser (Legacy AA No. 190)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 5

Mutation Effect:

Missense

Codon Change:

653T>C

No. of Patients Reported:

Phenotype:

Mild

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Kanaji et al 2009
age 80

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
74	NA	M	NA	6	NA	<2	NA	Homozygous	Mild	age 80	Kanaji et al 2009
75	NA	F	NA	12	NA	<2	NA	Homozygous	Asymptomatic	age 15	Kanaji et al 2009
76	NA	M	NA	60	NA	40	NA	Heterozygous	Asymptomatic	NA	Kanaji et al 2009
77	NA	M	NA	56	NA	32	NA	Heterozygous	Asymptomatic	NA	Kanaji et al 2009
78	NA	F	NA	67	NA	49	NA	Heterozygous	Asymptomatic	NA	Kanaji et al 2009

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.692T>G

p.Met231Arg (Legacy AA No. 203)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 5

Mutation Effect:

Missense

Codon Change:

692T>G

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Chapla et al 2011
intracranial bleeding immediately after birth, umbilical stump 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
79	NA	M	NA	0	NA	NA	NA	Homozygous		Severe	intracranial bleeding immediately after birth, umbilical stump bleeding	Chapla et al 2011
80	NA	N	NA	0	NA	NA	NA	Homozygous		Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.698C>G

p.Thr233Arg (Legacy AA No. 205)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 5

Mutation Effect:

Missense

Codon Change:

698C>G

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Frotscher et al 2012
GI bleeding at age 3 weeks and additional minor 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
702	NA	M	NA	0	NA	<1	NA	Heterozygous	c.6025G>A (p.Gly2009Arg)	Severe	GI bleeding at age 3 weeks and other minor bleeds	Frotscher et al 2012
703	NA	M	NA	0	NA	<1	NA	Heterozygous	c.6025G>A (p.Gly2009Arg)	Severe	umbilical cord bleed at birth	Frotscher et al 2012
81	NA	M	NA	0	NA	<1	NA	Heterozygous	c.6025G>A (p.Gly2009Arg)	Severe	GI bleeding at age 3 weeks and additional minor bleeds	Frotscher et al 2012
82	NA	M	NA	0	NA	<1	NA	Heterozygous	c.6025G>A (p.Gly2009Arg)	Severe	umbilical cord bleed at birth; spontaneous left knee haemarthrosis; subdural and extradural haematoma	Frotscher et al 2012
83	NA	F	NA	36	NA	NA	NA	Heterozygous		Asymptomatic	NA	Frotscher et al 2012

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.706G>T

p.Gly236* (Legacy AA No. 208)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 5

Mutation Effect:

Nonsense

Codon Change:

706G>T

No. of Patients Reported:

Phenotype:

Asymptomatic

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
84	NA	N	NA	37	NA	NA	NA	Heterozygous		Asymptomatic	NA	Cutler et al 2010

Structural Interpretation:

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

c.731-2A>C

NA (Legacy AA No. NA)

Mutation Type:

Point

Domain:

Intron

Location:

Intron 5

Mutation Effect:

Intronic

Codon Change:

731-2A>C

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
85	NA	F	NA	55	NA	NA	NA	Heterozygous		Asymptomatic	NA	Delev et al 2009

Structural Interpretation:

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

c.746C>T

p.Ala249Val (Legacy AA No. 221)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 6

Mutation Effect:

Missense

Codon Change:

746C>T

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Murray et al 1995
gum and rectal bleeding; epistaxis

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
86	NA	M	NA	26	NA	39	NA	Heterozygous	Asymptomatic	gum and rectal bleeding; epistaxis	Murray et al 1995
87	NA	F	NA	27	NA	50	NA	Heterozygous	Asymptomatic	NA	Murray et al 1995
88	NA	M	NA	77	NA	101	NA	Heterozygous	Asymptomatic	NA	Murray et al 1995

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.763T>C

p.Trp255Arg (Legacy AA No. 227)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 6

Mutation Effect:

Missense

Codon Change:

763T>C

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Delev et al 2009
bleeding after invasive procedures; 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
540	NA	F	NA	0	NA	4	NA	Heterozygous	c.4867T>G (p.Tyr1623Asp)	Severe	very mild epistaxis and gum bleeding; occasional menses	Duckers et al 2010
573	NA	F	NA	3	NA	NA	NA	Heterozygous	c.5176C>T (p.Arg1726Trp)	Moderate	bleeding after invasive procedures; menorrhagia	Delev et al 2009
89	NA	F	NA	3	NA	NA	NA	Heterozygous	c.5176C>T (p.Arg1726Trp)	Moderate	bleeding after invasive procedures; menorrhagia	Delev et al 2009
90	NA	F	NA	0	NA	4	NA	Heterozygous	c.4867T>G (p.Tyr1623Asp)	Severe	very mild epistaxis and gum bleeding	Duckers et al 2010

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.773T>C

p.Leu258Pro (Legacy AA No. 230)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 6

Mutation Effect:

Missense

Codon Change:

773T>C

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

NCBI Clinvar Variation ID: 627377
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
91	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 627377

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.776G>A

p.Gly259Glu (Legacy AA No. 231)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 6

Mutation Effect:

Missense

Codon Change:

776G>A

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.1118+1278	Mild	NA	Cutler et al 2010
92	NA	M	NA	6	NA	6	NA	Heterozygous	c.1118+1278	Mild	NA	Cutler et al 2010

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.785C>G

p.Ser262Trp (Legacy AA No. 234)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 6

Mutation Effect:

Missense

Codon Change:

785C>G

No. of Patients Reported:

Phenotype:

Mild

Association:

FV Deficiency

Allele Count *:

Allele Number *:

251130

Allele Frequency *:

0.000008

References and Comments:

Caudill 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
1	NA	F	NA	9	NA	NA	NA	Heterozygous	delexon1-25	Mild	deletion of entire F5 gene	Caudill et al 2007
97	NA	F	NA	9	NA	NA	NA	Heterozygous	delexon1-25	Mild	NA	Caudill et al 2007

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.785C>T

p.Ser262Leu (Legacy AA No. 234)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 6

Mutation Effect:

Missense

Codon Change:

785C>T

No. of Patients Reported:

Phenotype:

Mild

Association:

FV Deficiency

Allele Count *:

Allele Number *:

31386

Allele Frequency *:

0.000064

References and Comments:

Jin 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
171	NA	M	NA	6	NA	33	NA	Heterozygous	c.1321C>T (p.Arg441Cys)	Mild	NA	Jin et al 2009
93	NA	M	NA	6	NA	33	NA	Heterozygous	c.1321C>T (p.Arg441Cys)	Mild	NA	Jin et al 2009
94	NA	M	NA	66	NA	72	NA	Heterozygous		Asymptomatic	NA	Jin et al 2009
95	NA	F	NA	58	NA	67	NA	Heterozygous		Asymptomatic	NA	Jin et al 2009
96	NA	M	NA	52	NA	77	NA	Heterozygous		Asymptomatic	NA	Jin et al 2009

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.833A>G

p.Gln278Arg (Legacy AA No. 250)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 6

Mutation Effect:

Missense

Codon Change:

833A>G

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

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
98	NA	M	NA	42	NA	NA	NA	Heterozygous		Asymptomatic	bleeding after invasive procedures	Delev et al 2009

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.834G>C

p.Gln278His (Legacy AA No. 250)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 6

Mutation Effect:

Missense

Codon Change:

834G>C

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

251348

Allele Frequency *:

0.000024

References and Comments:

NCBI Clinvar Variation ID: 806280
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
99	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 806280

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.886G>A

p.Ala296Thr (Legacy AA No. 268)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 6

Mutation Effect:

Missense

Codon Change:

886G>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

282804

Allele Frequency *:

0.000021

References and Comments:

NCBI Clinvar Variation ID: 293634
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
100	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293634
101	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293634

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.910G>A

p.Gly304Arg (Legacy AA No. 276)

Mutation Type:

Point

Domain:

d5A1

Location:

Exon 6

Mutation Effect:

Missense

Codon Change:

910G>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

251414

Allele Frequency *:

0.000004

References and Comments:

NCBI Clinvar Variation ID: 806279
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
102	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 806279

Structural Interpretation:

Please click HERE for in-depth variant analysis.

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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).

References and Comments:

Patient Information: Show

Structural Interpretation:

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Structural Interpretation:

UNIQUE (Without Patient Data) :

EXCEL/CSV

TABULAR

MULTIPLE (With Patient Data) :

EXCEL/CSV

TABULAR