Factor V Variant Database

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

c.439G>T

p.Glu147* (Legacy AA No. 119)

Variant Type:

Point

Domain:

d5A1

Location:

Exon 4

Variant Effect:

Nonsense

Codon Change:

439G>T

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

thrombosis

Allele Count *:

Allele Number *:

Allele Frequency *:

Mumford et al 2003
NA

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
138	NA	M	NA	39	NA	NA	NA	Heterozygous	c.1160T>C (p.Ile387Thr)	Asymptomatic	NA	Mumford et al 2003
139	NA	M	NA	35	NA	NA	NA	Heterozygous	c.1160T>C (p.Ile387Thr)	Asymptomatic	thrombosis even with warfarin therapy; APC resistance	Mumford et al 2003
51	NA	M	NA	48	NA	NA	NA	Heterozygous		Asymptomatic	NA	Mumford et al 2003
52	NA	M	NA	47	NA	NA	NA	Heterozygous		Asymptomatic	NA	Mumford et al 2003
53	NA	M	NA	39	NA	NA	NA	Heterozygous	c.1160T>C (p.Ile387Thr)	Asymptomatic	thrombosis of femoral vein and inferior vena cava: recurrent thrombosis even with warfarin treatment; APC resistance	Mumford et al 2003
54	NA	M	NA	35	NA	NA	NA	Heterozygous	c.1160T>C (p.Ile387Thr)	Asymptomatic	thrombosis even with warfarin therapy; APC resistance	Mumford et al 2003
55	NA	M	NA	36	NA	NA	NA	Heterozygous		Asymptomatic	NA	Mumford et al 2003

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

Factor X Variant Database

Factor V Gene (F5)