Factor V Variant Database

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

c.6419G>A

p.Gly2140Asp (Legacy AA No. 2112)

Variant Type:

Point

Domain:

d5C2

Location:

Exon 24

Variant Effect:

Missense

Codon Change:

6419G>A

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

250984

Allele Frequency *:

0.000004

Duckers et al 2010
mild menorrhagia; postpartum haemorrhage needing fresh frozen plasma

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
232	NA	N	NA	56	NA	59	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	VTE	Simioni et al 2005
767	NA	F	NA	4	NA	10	NA	Homozygous		Moderate	mild menorrhagia; postpartum haemorrhage needing fresh frozen plasma	Duckers et al 2010
768	NA	N	NA	60	NA	65	NA	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
769	NA	N	NA	56	NA	59	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	VTE	Simioni et al 2005

Please click HERE for in-depth variant analysis.

Factor X Variant Database

Factor V Gene (F5)