Factor V Variant Database

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

c.5630C>A

p.Ser1877* (Legacy AA No. 1849)

Variant Type:

Point

Domain:

d5A3

Location:

Exon 18

Variant Effect:

Nonsense

Codon Change:

5630C>A

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

Paraboschi et al 2020
Severe 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
173	NA	N	NA	2	NA	<1	NA	Heterozygous	c.1321C>T (p.Arg441Cys)	Moderate	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
663	NA	N	NA	2	NA	<1	NA	Heterozygous	c.1321C>T (p.Arg441Cys)	Moderate	Severe 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)