Factor V Variant Database

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

c.763T>C

p.Trp255Arg (Legacy AA No. 227)

Variant Type:

Point

Domain:

d5A1

Location:

Exon 6

Variant Effect:

Missense

Codon Change:

763T>C

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

Delev et al 2009
bleeding after invasive procedures; menorrhagia

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
540	NA	F	NA	0	NA	4	NA	Heterozygous	c.4867T>G (p.Tyr1623Asp)	Severe	very mild epistaxis and gum bleeding; occasional menses	Duckers et al 2010
573	NA	F	NA	3	NA	NA	NA	Heterozygous	c.5176C>T (p.Arg1726Trp)	Moderate	bleeding after invasive procedures; menorrhagia	Delev et al 2009
89	NA	F	NA	3	NA	NA	NA	Heterozygous	c.5176C>T (p.Arg1726Trp)	Moderate	bleeding after invasive procedures; menorrhagia	Delev et al 2009
90	NA	F	NA	0	NA	4	NA	Heterozygous	c.4867T>G (p.Tyr1623Asp)	Severe	very mild epistaxis and gum bleeding	Duckers et al 2010

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Factor X Variant Database

Factor V Gene (F5)