Factor V Variant Database

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

c.5521G>A

p.Val1841Met (Legacy AA No. 1813)

Variant Type:

Point

Domain:

d5A3

Location:

Exon 17

Variant Effect:

Missense

Codon Change:

5521G>A

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

250952

Allele Frequency *:

0.000008

Shinozawa et al 2007
haemarthroses; dorsal muscle bleeding

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
298	NA	M	NA	<1	NA	5	NA	Heterozygous	c.2218C>T (p.Arg740*)	Severe	epistaxis and easy bruising requiring plasma infusion after dental extraction	Montefusco et al 2003
647	NA	M	NA	0	NA	4	NA	Homozygous		Severe	haemarthroses; dorsal muscle bleeding	Shinozawa et al 2007
648	NA	F	NA	35	NA	NA	NA	Heterozygous		Asymptomatic	NA	Delev et al 2009
649	NA	M	NA	0	NA	5	NA	Heterozygous	c.2218C>T (p.Arg740*)	Severe	easy bruising and epistaxis	Montefusco et al 2003
650	NA	F	NA	0	NA	9	NA	Heterozygous	c.6157_6161delACCCT (p.Thr2053Serfs*8)	Severe	epistaxis, easy bruising, and hemarthroses	Shinozawa et al 2007
651	NA	F	NA	69	NA	62	NA	Heterozygous		Asymptomatic	NA	Shinozawa et al 2007
717	NA	F	NA	<1	NA	9	NA	Heterozygous	c.6157_6161delACCCT (p.Thr2053Serfs*8)	Severe	epistaxis, easy bruising, and hemarthroses	Shinozawa et al 2007

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Factor X Variant Database

Factor V Gene (F5)