Factor V Variant Database

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

c.6175C>T

p.Gln2059* (Legacy AA No. 2031)

Variant Type:

Point

Domain:

d5C1

Location:

Exon 22

Variant Effect:

Nonsense

Codon Change:

6175C>T

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

Wang et al 2014
NA

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Severity	Comments	Reference
721	NA	M	NA	52	NA	37	NA	Heterozygous	Asymptomatic	NA	Wang et al 2014
722	NA	F	NA	47	NA	31	NA	Heterozygous	Asymptomatic	NA	Wang et al 2014
723	NA	M	NA	48	NA	38	NA	Heterozygous	Asymptomatic	NA	Wang et al 2014
724	NA	M	NA	47	NA	39	NA	Heterozygous	Asymptomatic	NA	Wang et al 2014
725	NA	M	NA	26	NA	20	NA	Heterozygous	Asymptomatic	easy bruising in the lower limbs; also has heterozygous polymorphism Arg513Lys	Wang et al 2014
726	NA	M	NA	24	NA	22	NA	Heterozygous	Asymptomatic	NA	Wang et al 2014

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

Factor X Variant Database

Factor V Gene (F5)