Factor V Variant Database

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

c.4906G>A

p.Glu1636Lys (Legacy AA No. 1608)

Variant Type:

Point

Domain:

d5A3

Location:

Exon 14

Variant Effect:

Missense

Codon Change:

4906G>A

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

thrombosis

Allele Count *:

Allele Number *:

Allele Frequency *:

Lunghi et al 2005B
epistaxis and haematoma frequently occur

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
224	NA	M	NA	55	NA	54	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	DVT	Lunghi et al 2005B
225	NA	F	NA	57	NA	NA	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	recurrent phlebitis	Lunghi et al 2005B
226	NA	M	NA	20	NA	NA	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	carotid thrombosis and recurrent DVT	Lunghi et al 2005B
544	NA	F	NA	39	NA	44	NA	Heterozygous		Asymptomatic	epistaxis and haematoma frequently occur	Lunghi et al 2005B
545	NA	M	NA	44	NA	83	NA	Heterozygous		Asymptomatic	NA	Lunghi et al 2005B
546	NA	M	NA	55	NA	54	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	DVT	Lunghi et al 2005B
547	NA	F	NA	57	NA	NA	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	phlebitis	Lunghi et al 2005B
548	NA	M	NA	20	NA	NA	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	recurrent DVT and occlusive carotid thrombosis	Lunghi et al 2005B
549	NA	F	NA	NA	NA	NA	NA	Heterozygous		NA	recurrent superficial thrombophlebitis	Lunghi et al 2005B
550	NA	F	NA	40	NA	36	NA	Heterozygous		Asymptomatic	NA	Lunghi et al 2005B
551	NA	F	NA	38	NA	50	NA	Heterozygous		Asymptomatic	spontaneous haematoma and metrorrhagia	Lunghi et al 2005B
552	NA	N	NA	50	NA	70	NA	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020

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Factor X Variant Database

Factor V Gene (F5)