Factor V Variant Database

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

c.6320G>T

p.Gly2107Val (Legacy AA No. 2079)

Variant Type:

Point

Domain:

d5C2

Location:

Exon 23

Variant Effect:

Missense

Codon Change:

6320G>T

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

Cao et al 2011
severe recurrent spontaneous epistaxis requiring blood transfusion

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
291	NA	M	NA	<1	NA	2	NA	Heterozygous	c.2149_2150delGA (p.Asp717*)	Severe	bruising and gum bleeding; GI bleeding requiring fresh frozen plasma	Fu QH et al 2004
293	NA	N	NA	<1	NA	2	NA	Heterozygous	c.2149_2150delGA (p.Asp717*)	Severe	NA	Zhou et al 2005
756	NA	M	NA	2	NA	2	NA	Homozygous		Moderate	severe recurrent spontaneous epistaxis requiring blood transfusion	Cao et al 2011
757	NA	M	NA	65	NA	54	NA	Heterozygous		Asymptomatic	NA	Cao et al 2011
758	NA	F	NA	78	NA	62	NA	Heterozygous		Asymptomatic	NA	Cao et al 2011
759	NA	M	NA	0	NA	2	NA	Heterozygous	c.2149_2150delGA (p.Asp717*)	Severe	recurrent epistaxis, easy bruising and gum bleeding; GI bleeding requiring fresh frozen plasma infusion	Fu QH et al 2004
760	NA	M	NA	54	NA	50	NA	Heterozygous		Asymptomatic	NA	Fu QH et al 2004
761	NA	N	NA	0	NA	2	NA	Heterozygous	c.2149_2150delGA (p.Asp717*)	Severe	NA	Zhou et al 2005
762	NA	N	NA	low	NA	low	NA	Not reported		NA	NA	Cao et al 2008

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Factor X Variant Database

Factor V Gene (F5)