Factor V Variant Database

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

c.5227G>A

p.Gly1743Ser (Legacy AA No. 1715)

Variant Type:

Point

Domain:

d5A3

Location:

Exon 16

Variant Effect:

Missense

Codon Change:

5227G>A

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

Liu et al 2020
recurrent gingival bleeding

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Severity	Comments	Reference
600	NA	M	NA	3	NA	7	NA	Homozygous	Moderate	recurrent gingival bleeding	Liu et al 2020
601	NA	M	NA	60	NA	62	NA	Heterozygous	Asymptomatic	NA	Liu et al 2020
602	NA	F	NA	47	NA	51	NA	Heterozygous	Asymptomatic	NA	Liu et al 2020
603	NA	M	NA	45	NA	52	NA	Heterozygous	Asymptomatic	NA	Liu et al 2020
604	NA	F	NA	52	NA	49	NA	Heterozygous	Asymptomatic	NA	Liu et al 2020

Please click HERE for in-depth variant analysis.

Factor X Variant Database

Factor V Gene (F5)