Factor V Variant Database

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

c.4900C>T

p.Arg1634* (Legacy AA No. 1606)

Variant Type:

Point

Domain:

d5A3

Location:

Exon 14

Variant Effect:

Nonsense

Codon Change:

4900C>T

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

251104

Allele Frequency *:

0.000008

Delev et al 2009
bleeding after invasive procedures

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
541	NA	F	NA	37	NA	NA	NA	Heterozygous		Asymptomatic	bleeding after invasive procedures	Delev et al 2009
542	NA	F	NA	NA	NA	NA	NA	Heterozygous		NA	NA	Delev et al 2009
543	NA	M	NA	<1	NA	<1	NA	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Severe	muscle hematomas and hemarthroses spontaneously or after minor trauma	Montefusco et al 2003
592	NA	M	NA	0	NA	<1	NA	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Severe	muscle hematomas and hemarthroses spontaneously or after minor trauma; gum bleeding	Montefusco et al 2003

Structural analysis cannot be performed on this (Point | Nonsense) variant.

Factor X Variant Database

Factor V Gene (F5)