Factor V Variant Database

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

c.1321C>T

p.Arg441Cys (Legacy AA No. 413)

Variant Type:

Point

Domain:

d5A2

Location:

Exon 9

Variant Effect:

Missense

Codon Change:

1321C>T

No. of Patients Reported:

Phenotype:

Association:

FV Deficiency

Allele Count *:

Allele Number *:

282636

Allele Frequency *:

0.00005

Delev et al 2009
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
169	NA	F	NA	NA	NA	NA	NA	Heterozygous		NA	NA	Delev et al 2009
170	NA	M	NA	68	NA	68	NA	Heterozygous		Asymptomatic	NA	Jin et al 2009
171	NA	M	NA	6	NA	33	NA	Heterozygous	c.785C>T (p.Ser262Leu)	Mild	NA	Jin et al 2009
172	NA	F	NA	67	NA	74	NA	Heterozygous		Asymptomatic	NA	Jin et al 2009
173	NA	N	NA	2	NA	<1	NA	Heterozygous	c.5630C>A (p.Ser1877*)	Moderate	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
663	NA	N	NA	2	NA	<1	NA	Heterozygous	c.5630C>A (p.Ser1877*)	Moderate	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
93	NA	M	NA	6	NA	33	NA	Heterozygous	c.785C>T (p.Ser262Leu)	Mild	NA	Jin et al 2009

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Factor X Variant Database

Factor V Gene (F5)