Factor V Variant Database

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

c.524A>G

p.His175Arg (Legacy AA No. 147)

Variant Type:

Point

Domain:

d5A1

Location:

Exon 4

Variant Effect:

Missense

Codon Change:

524A>G

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

282760

Allele Frequency *:

0.000332

Liu et al 2014A
tooth extraction caused severe and prolonged 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
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

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Factor X Variant Database

Factor V Gene (F5)