Factor V Variant Database

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

c.479C>G

p.Pro160Arg (Legacy AA No. 132)

Variant Type:

Point

Domain:

d5A1

Location:

Exon 4

Variant Effect:

Missense

Codon Change:

479C>G

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

Paraboschi et al 2012
GI bleeding following birth treated with fresh-frozen plasma; heterozygous for p.Met2148Thr

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
56	NA	M	NA	0	NA	<1	NA	Heterozygous	c.5752delA (p.Ile1918Tyrfs*19)	Severe	GI bleeding following birth treated with fresh-frozen plasma; heterozygous for p.Met2148Thr	Paraboschi et al 2012
57	NA	M	NA	53	NA	61	NA	Heterozygous		Asymptomatic	NA	Paraboschi et al 2012
674	NA	M	NA	<1	NA	<1	NA	Heterozygous	c.5752delA (p.Ile1918Tyrfs*19)	Severe	GI bleeding after birth requiring fresh-frozen plasma; heterozygous for p.Met2148Thr	Paraboschi et al 2012

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Factor X Variant Database

Factor V Gene (F5)