Factor V Variant Database

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

c.1309A>G

p.Asn437Asp (Legacy AA No. 409)

Variant Type:

Point

Domain:

d5A2

Location:

Exon 9

Variant Effect:

Missense

Codon Change:

1309A>G

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

Paraboschi et al 2020
Mild FV deficiency (>13% FV:C)

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
168	NA	N	NA	28	NA	31	NA	Heterozygous	c.6443T>C (p.Met2148Thr)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
777	NA	N	NA	28	NA	31	NA	Heterozygous	c.6443T>C (p.Met2148Thr)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020

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Factor X Variant Database

Factor V Gene (F5)