Factor V Variant Database

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

c.5492T>C

p.Leu1831Pro (Legacy AA No. 1803)

Variant Type:

Point

Domain:

d5A3

Location:

Exon 17

Variant Effect:

Missense

Codon Change:

5492T>C

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

Wang et al 2018
haematuria requiring frozen-fresh plasma transfusion; lower VWF activity

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Severity	Comments	Reference
640	NA	M	NA	41	NA	NA	NA	Heterozygous	Asymptomatic	haematuria requiring frozen-fresh plasma transfusion; lower VWF activity	Wang et al 2018
641	NA	F	NA	47	NA	NA	NA	Heterozygous	Asymptomatic	menorrhagia	Wang et al 2018
642	NA	F	NA	53	NA	NA	NA	Heterozygous	Asymptomatic	menorrhagia	Wang et al 2018
643	NA	M	NA	42	NA	NA	NA	Heterozygous	Asymptomatic	gingival bleeding	Wang et al 2018

Please click HERE for in-depth variant analysis.

Factor X Variant Database

Factor V Gene (F5)