Factor V Variant Database

Search Results: 1 unique variant retrieved.

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

c.3980A>G

p.His1327Arg (Legacy AA No. 1299)

Variant Type:

Point

Domain:

d5B

Location:

Exon 13

Variant Effect:

Missense

Codon Change:

3980A>G

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

thrombosis

Allele Count *:

15590

Allele Number *:

277490

Allele Frequency *:

0.056182

References and Comments:

Castoldi et al 2004
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
137	NA	N	NA	30	NA	30	NA	Heterozygous	c.1135_1136delCA (p.His379Phefs*3)	Asymptomatic	Mild FV deficiency (>13% FV:C); heterozygous for HR2 haplotype variants	Paraboschi et al 2020
158	NA	F	NA	37	NA	43	NA	Heterozygous	c.1296+268A>G (NA)	Asymptomatic	NA	Castoldi et al 2011
2	NA	M	NA	1	NA	NA	NA	Heterozygous	delexon1-7 (NA)c.1975+5G>A (NA)	Moderate	heel pricks and prolonged bleeding, circumcision caused bleeding, bleeding that required a transfusion with blood and fresh-frozen plasma (day 2)	Guella et al 2011
211	NA	F	NA	47	NA	53	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	history of venous thrombosis; pseudohomozygous APC resistance	Castaman et al 1997
212	NA	M	NA	45	NA	52	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	stroke aged 41; pseudohomozygous APC resistance	Castaman et al 1997
214	NA	M	NA	50	NA	48	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	NA	Castaman et al 1997
271	NA	M	NA	1	NA	NA	NA	Heterozygous	delexon1-7 (NA)c.1975+5G>A (NA)	Moderate	bleeding post circumcision, bleeding from umbilical venous catheter that required fresh-frozen plasma	Guella et al 2011
272	NA	M	NA	NA	NA	NA	NA	Heterozygous	c.1975+5G>A (NA)	NA	NA	Guella et al 2011
475	NA	M	NA	77	NA	NA	NA	Homozygous		Asymptomatic	NA	Castoldi et al 2004
476	NA	M	NA	80	NA	NA	NA	Homozygous		Asymptomatic	NA	Castoldi et al 2004
477	NA	N	NA	29	NA	NA	NA	Heterozygous	c.5176C>T (p.Arg1726Trp)	Asymptomatic	epistaxis	Calzavarini et al 2013
478	NA	M	NA	45	NA	52	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	stroke aged 41; pseudohomozygous APC resistance	Castaman et al 1997
479	NA	M	NA	55	NA	58	NA	Heterozygous		Asymptomatic	NA	Castaman et al 1997
480	NA	M	NA	50	NA	48	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	pseudohomozygous APC resistance	Castaman et al 1997
481	NA	F	NA	47	NA	53	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	pseudohomozygous APC resistance	Castaman et al 1997
482	NA	F	NA	36	NA	43	NA	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Asymptomatic	DVT and PE	Castoldi et al 2000A
483	NA	F	NA	37	NA	43	NA	Heterozygous	c.1296+268A>G (NA)	Asymptomatic	NA	Castoldi et al 2011
484	NA	M	NA	1	NA	NA	NA	Heterozygous	delexon1-7 (NA)c.1975+5G>A (NA)	Moderate	NA	Guella et al 2011
485	NA	M	NA	NA	NA	NA	NA	Heterozygous	c.1975+5G>A (NA)	NA	NA	Guella et al 2011
486	NA	N	NA	66	NA	65	NA	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
487	NA	N	NA	30	NA	30	NA	Heterozygous	c.1135_1136delCA (p.His379Phefs*3)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
488	NA	N	NA	45	NA	NA	NA	Heterozygous	c.4650C>G (p.Tyr1550*)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
489	NA	N	NA	36	NA	27	NA	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
490	NA	N	NA	65	NA	60	NA	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
491	NA	N	NA	65	NA	40	NA	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
492	NA	B	NA	NA	NA	NA	NA	Both		NA	NA	de Visser et al 2000
493	NA	N	NA	NA	NA	NA	NA	Not Reported		NA	NA	Le et al 2000
494	NA	N	NA	NA	NA	NA	NA	Both		NA	NA	Lunghi et al 1996
526	NA	N	NA	45	NA	NA	NA	Heterozygous	c.4650C>G (p.Tyr1550*)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
572	NA	N	NA	29	NA	NA	NA	Heterozygous	c.5176C>T (p.Arg1726Trp)	Asymptomatic	epistaxis	Calzavarini et al 2013
584	NA	F	NA	36	NA	43	NA	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Asymptomatic	DVT & PE	Castoldi et al 2000A

Structural Interpretation:

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Factor X Variant Database

Factor V Gene (F5)

Variant Database

Search Results: 1 unique variant retrieved.

References and Comments:

Patient Information: Show

Structural Interpretation: