Factor V Variant Database

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

c.1281C>G

p.Val427Val (Legacy AA No. 399)

Variant Type:

Point

Domain:

d5A2

Location:

Exon 8

Variant Effect:

Silent

Codon Change:

1281C>G

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

Nuzzo et al 2015A
muscle bleeds induced by mild trauma needing fresh frozen plasma treatment

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
155	NA	M	NA	<1	NA	<1	NA	Heterozygous	c.578G>C (p.Cys193Ser)	Severe	muscle bleeds induced by mild trauma needing fresh frozen plasma treatment	Nuzzo et al 2015A
68	NA	M	NA	0	NA	<1	NA	Heterozygous	c.578G>C (p.Cys193Ser)	Severe	muscle caused by mild trauma needing fresh frozen plasma treatment	Nuzzo et al 2015A

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

Factor X Variant Database

Factor V Gene (F5)