Factor V Variant Database

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

c.6665A>G

p.Asp2222Gly (Legacy AA No. 2194)

Variant Type:

Point

Domain:

d5C2

Location:

Exon 25

Variant Effect:

Missense

Codon Change:

6665A>G

No. of Patients Reported:

Phenotype:

Association:

thrombosis

Allele Count *:

17878

Allele Number *:

282444

Allele Frequency *:

0.063298

Castoldi et al 2000B
NA

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Severity	Comments	Reference
795	NA	N	NA	NA	NA	NA	NA	Homozygous	NA	NA	Castoldi et al 2000B
796	NA	M	NA	40	NA	NA	NA	Homozygous	Asymptomatic	NA	Delev et al 2009
797	NA	F	NA	60	NA	NA	NA	Heterozygous	Asymptomatic	bleeding after invasive procedures; hypermenorrhoea	Delev et al 2009
798	NA	M	NA	NA	NA	NA	NA	Heterozygous	NA	NA	Delev et al 2009
799	NA	B	NA	NA	NA	NA	NA	Heterozygous	NA	NA	Scanavini et al 2004
800	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	van der Neut Kolfschoten et al 2003
801	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	Yamazaki et al 2002

Please click HERE for in-depth variant analysis.

Factor X Variant Database

Factor V Gene (F5)