Factor V Variant Database

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

c.5546T>C

p.Leu1849Ser (Legacy AA No. 1821)

Variant Type:

Point

Domain:

d5A3

Location:

Exon 17

Variant Effect:

Missense

Codon Change:

5546T>C

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

Cutler et al 2010
NA

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
628	NA	N	NA	3	NA	5	NA	Heterozygous	c.5408A>G (p.His1803Arg)	Moderate	NA	Cutler et al 2010
654	NA	N	NA	3	NA	5	NA	Heterozygous	c.5408A>G (p.His1803Arg)	Moderate	NA	Cutler et al 2010
655	NA	N	NA	35	NA	NA	NA	Heterozygous		Asymptomatic	Na	Cutler et al 2010

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Factor X Variant Database

Factor V Gene (F5)