Factor V Variant Database

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

c.6179G>A

p.Gly2060Asp (Legacy AA No. 2032)

Variant Type:

Point

Domain:

d5C1

Location:

Exon 22

Variant Effect:

Missense

Codon Change:

6179G>A

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

thrombosis

Allele Count *:

Allele Number *:

Allele Frequency *:

Asselta et al 2004
retinal vein thrombosis

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
207	NA	F	NA	65	NA	53	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	retinal vein thrombosis	Asselta et al 2004
208	NA	F	NA	50	NA	39	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	NA	Asselta et al 2004
209	NA	F	NA	47	NA	46	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	NA	Asselta et al 2004
727	NA	F	NA	65	NA	53	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	retinal vein thrombosis	Asselta et al 2004
728	NA	F	NA	50	NA	39	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	NA	Asselta et al 2004
729	NA	F	NA	47	NA	46	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	NA	Asselta et al 2004

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Factor X Variant Database

Factor V Gene (F5)