Factor V Variant Database

Search Results: 2 unique variants retrieved

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

c.5176C>T

p.Arg1726Trp (Legacy AA No. 1698)

Variant Type:

Point

Domain:

d5A3

Location:

Exon 15

Variant Effect:

Missense

Codon Change:

5176C>T

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

250756

Allele Frequency *:

0.000024

References and Comments:

Calzavarini et al 2013
epistaxis

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
210	NA	N	NA	41	NA	46	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	epistaxis	Calzavarini et al 2013
477	NA	N	NA	29	NA	NA	NA	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	epistaxis	Calzavarini et al 2013
571	NA	N	NA	41	NA	46	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	epistaxis	Calzavarini et al 2013
572	NA	N	NA	29	NA	NA	NA	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	epistaxis	Calzavarini et al 2013
573	NA	F	NA	3	NA	NA	NA	Heterozygous	c.763T>C (p.Trp255Arg)	Moderate	bleeding after invasive procedures; menorrhagia	Delev et al 2009
574	NA	M	NA	6	NA	NA	NA	Heterozygous	c.6139C>T (p.Arg2047*)	Mild	NA	Delev et al 2009
716	NA	M	NA	6	NA	NA	NA	Heterozygous	c.6139C>T (p.Arg2047*)	Mild	NA	Delev et al 2009
89	NA	F	NA	3	NA	NA	NA	Heterozygous	c.763T>C (p.Trp255Arg)	Moderate	bleeding after invasive procedures; menorrhagia	Delev et al 2009

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5177G>A

p.Arg1726Gln (Legacy AA No. 1698)

Variant Type:

Point

Domain:

d5A3

Location:

Exon 15

Variant Effect:

Missense

Codon Change:

5177G>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

282142

Allele Frequency *:

0.000053

References and Comments:

NCBI Clinvar Variation ID: 255209
NA

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Other Variants	Severity	Comments	Reference
575	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 255209
576	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 255209

Structural Interpretation:

Please click HERE for in-depth variant analysis.

Factor X Variant Database

Factor V Gene (F5)

Variant Database

Search Results: 2 unique variants retrieved

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation: