Factor V Variant Database

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

c.1426C>T

p.Gln476* (Legacy AA No. 448)

Variant Type:

Point

Domain:

d5A2

Location:

Exon 10

Variant Effect:

Nonsense

Codon Change:

1426C>T

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

Delev et al 2009
pseudo-homozygous FV Leiden: one thrombotic episode

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
183	NA	M	NA	67	NA	NA	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	pseudo-homozygous FV Leiden: one thrombotic episode	Delev et al 2009
184	NA	F	NA	30	NA	NA	NA	Heterozygous		Asymptomatic	haematuria	Delev et al 2009
220	NA	M	NA	67	NA	NA	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	pseudo-homozygous FV Leiden: one thrombotic episode	Delev et al 2009

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

Factor X Variant Database

Factor V Gene (F5)