Factor V Variant Database

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

c.4650C>G

p.Tyr1550* (Legacy AA No. 1522)

Variant Type:

Point

Domain:

Location:

Exon 13

Variant Effect:

Nonsense

Codon Change:

4650C>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
488	NA	N	NA	45	NA	NA	NA	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
526	NA	N	NA	45	NA	NA	NA	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020

Structural analysis cannot be performed on this (Point | Nonsense) variant.

Factor X Variant Database

Factor V Gene (F5)