Factor V Variant Database

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

c.5236G>A

p.Gly1746Ser (Legacy AA No. 1718)

Variant Type:

Point

Domain:

d5A3

Location:

Exon 16

Variant Effect:

Missense

Codon Change:

5236G>A

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

thrombosis

Allele Count *:

Allele Number *:

Allele Frequency *:

Pruller et al 2013
normal APCR ratio despite heterozygous FV Leiden

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
227	NA	F	NA	65	NA	43	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	normal APCR ratio despite heterozygous FV Leiden	Pruller et al 2013
228	NA	M	NA	72	NA	37	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	normal APCR ratio even with heterozygous FV Leiden	Pruller et al 2013
229	NA	F	NA	54	NA	30	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	normal APCR ratio even though heterozygous FV Leiden	Pruller et al 2013
230	NA	F	NA	76	NA	52	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	normal APCR ratio even though heterozygous FV Leiden	Pruller et al 2013
605	NA	F	NA	65	NA	43	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	normal APCR ratio despite heterozygous FV Leiden	Pruller et al 2013
606	NA	M	NA	72	NA	37	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	normal APCR ratio despite heterozygous FV Leiden	Pruller et al 2013
607	NA	F	NA	54	NA	30	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	normal APCR ratio despite heterozygous FV Leiden	Pruller et al 2013
608	NA	F	NA	76	NA	52	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	normal APCR ratio despite heterozygous FV Leiden	Pruller et al 2013

Please click HERE for in-depth variant analysis.

Factor X Variant Database

Factor V Gene (F5)