Factor V Variant Database

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

c.1059C>G

p.Phe353Leu (Legacy AA No. 325)

Variant Type:

Point

Domain:

d5A2

Location:

Exon 7

Variant Effect:

Missense

Codon Change:

1059C>G

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

251444

Allele Frequency *:

0.000012

Cai et al 2007
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
122	NA	F	NA	4	NA	4	NA	Heterozygous	c.5520_5526dup (p.His1843Argfs*15)	Moderate	NA	Cai et al 2007
123	NA	F	NA	52	NA	58	NA	Heterozygous		Asymptomatic	NA	Cai et al 2007
124	NA	M	NA	45	NA	42	NA	Heterozygous		Asymptomatic	NA	Cai et al 2007
644	NA	F	NA	4	NA	4	NA	Heterozygous	c.5520_5526dup (p.His1843Argfs*15)	Moderate	NA	Cai et al 2007

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Factor X Variant Database

Factor V Gene (F5)