Factor V Variant Database

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

c.1611G>T

p.Gln537His (Legacy AA No. 509)

Variant Type:

Point

Domain:

d5A2

Location:

Exon 10

Variant Effect:

Missense

Codon Change:

1611G>T

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

Schrijver et al 2002B
umblical bleeding at birth; gingival bleeding; repeated CNS haemorrhage

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
239	NA	F	NA	0	NA	8	NA	Homozygous	c.4210C>T (p.Pro1404Ser)	Severe	umblical bleeding at birth; gingival bleeding; repeated CNS haemorrhage	Schrijver et al 2002B
240	NA	F	NA	25	NA	48	NA	Heterozygous		Asymptomatic	NA	Schrijver et al 2002B
241	NA	M	NA	26	NA	NA	NA	Heterozygous		Asymptomatic	NA	Schrijver et al 2002B
242	NA	F	NA	29	NA	30	NA	Heterozygous		Asymptomatic	NA	Schrijver et al 2002B
509	NA	F	NA	0	NA	8	NA	Homozygous	c.4210C>T (p.Pro1404Ser)	Severe	umblical bleeding at birth; gingival bleeding; CNS haemorrhage; splice error and chain termination upstream	Schrijver et al 2002B

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Factor X Variant Database

Factor V Gene (F5)