Factor V Variant Database

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

c.2082G>C

p.Glu694Asp (Legacy AA No. 666)

Variant Type:

Point

Domain:

d5a2

Location:

Exon 13

Variant Effect:

Missense

Codon Change:

2082G>C

No. of Patients Reported:

Phenotype:

Association:

thrombosis

Allele Count *:

Allele Number *:

Allele Frequency *:

Cai et al 2010
vein thrombosis and pulmonary embolism

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Severity	Comments	Reference
283	NA	F	NA	NA	NA	NA	NA	Heterozygous	NA	vein thrombosis and pulmonary embolism	Cai et al 2010
284	NA	F	NA	206	NA	NA	NA	Heterozygous	Asymptomatic	NA	Cai et al 2010
285	NA	F	NA	135	NA	NA	NA	Heterozygous	Asymptomatic	NA	Cai et al 2010
286	NA	M	NA	143	NA	NA	NA	Heterozygous	Asymptomatic	NA	Cai et al 2010

Please click HERE for in-depth variant analysis.

Factor X Variant Database

Factor V Gene (F5)