Factor V Variant Database

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

c.1258G>T

p.Gly420Cys (Legacy AA No. 392)

Variant Type:

Point

Domain:

d5A2

Location:

Exon 8

Variant Effect:

Missense

Codon Change:

1258G>T

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

251382

Allele Frequency *:

0.000004

Chen et al 2005
gum bleeding and bruising, intra-abdominal bleeding after appendectomy requiring 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
144	NA	M	NA	2	NA	3	NA	Homozygous		Moderate	gum bleeding and bruising, intra-abdominal bleeding after appendectomy requiring fresh-frozen plasma treatment	Chen et al 2005
145	NA	M	NA	43	NA	45	NA	Heterozygous		Asymptomatic	NA	Chen et al 2005
146	NA	F	NA	76	NA	87	NA	Heterozygous		Asymptomatic	NA	Chen et al 2005
147	NA	F	NA	72	NA	85	NA	Heterozygous		Asymptomatic	NA	Chen et al 2005
148	NA	F	NA	63	NA	72	NA	Heterozygous		Asymptomatic	NA	Chen et al 2005
149	NA	F	NA	0	NA	1	NA	Heterozygous	c.4798delG (p.Glu1600Lysfs*19)	Severe	prolonged bleeding after opthalmological surgery requiring fresh frozen plasma treatment	Fu Q et al 2003
150	NA	M	NA	70	NA	40	NA	Heterozygous		Asymptomatic	NA	Fu Q et al 2003
151	NA	M	NA	49	NA	26	NA	Heterozygous		Asymptomatic	NA	Fu Q et al 2003
152	NA	M	NA	53	NA	36	NA	Heterozygous		Asymptomatic	NA	Fu Q et al 2003
153	NA	M	NA	36	NA	30	NA	Heterozygous		Asymptomatic	NA	Fu Q et al 2003
535	NA	F	NA	<1	NA	1	NA	Heterozygous	c.4798delG (p.Glu1600Lysfs*19)	Severe	opthalmological surgery requiring transfusions of fresh frozen plasma	Fu Q et al 2003

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Factor X Variant Database

Factor V Gene (F5)