Factor V Variant Database

Search Results: 1 unique variant retrieved.

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

c.5189A>G

p.Tyr1730Cys (Legacy AA No. 1702)

Variant Type:

Point

Domain:

d5A3

Location:

Exon 15

Variant Effect:

Missense

Codon Change:

5189A>G

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

250750

Allele Frequency *:

0.000016

References and Comments:

Castoldi et al 2001
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
121	NA	F	NA	<1	NA	<3	NA	Heterozygous	c.1042_1049del (p.Lys348Glyfs*32)	Severe	soft tissue bleeds of the mouth, epistaxis, fresh frozen plasma used to treat	van Wijk et al 2001A
216	NA	M	NA	50	NA	50	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	pseudohomozygous FV Leiden; right leg DVT	Castoldi et al 2000A
217	NA	M	NA	50	NA	50	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	recurrent thromboses; pseudohomozygous APC resistance	Castoldi et al 2001
234	NA	N	NA	45	NA	44	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	VTE	Simioni et al 2005
264	NA	F	NA	<3	NA	<1	NA	Heterozygous	c.1852dupC (p.Gln618Profs*3)	Asymptomatic	recurrent epistaxis	Yamakage et al 2006
482	NA	F	NA	36	NA	43	NA	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	DVT and PE	Castoldi et al 2000A
543	NA	M	NA	<1	NA	<1	NA	Heterozygous	c.4900C>T (p.Arg1634*)	Severe	muscle hematomas and hemarthroses spontaneously or after minor trauma	Montefusco et al 2003
577	NA	M	NA	1	NA	NA	NA	Homozygous		Moderate	NA	Castoldi et al 2001
578	NA	F	NA	1	NA	NA	NA	Homozygous		Moderate	recurrent epistaxis; serious hemorrhage post dental extraction	Castoldi et al 2001
579	NA	F	NA	0	NA	1	NA	Homozygous		Severe	NA	Montefusco et al 2003
580	NA	N	NA	0	NA	<1	NA	Homozygous		Severe	hernia with hemmorhages	Paraboschi et al 2020
581	NA	N	NA	0	NA	2	NA	Homozygous		Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
582	NA	M	NA	<2	NA	NA	NA	Homozygous		Asymptomatic	bleeding after trauma or surgery	Talbot et al 2010
583	NA	M	NA	50	NA	50	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	pseudohomozygous FV Leiden; right leg DVT	Castoldi et al 2000A
584	NA	F	NA	36	NA	43	NA	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	DVT & PE	Castoldi et al 2000A
585	NA	M	NA	60	NA	60	NA	Heterozygous		Asymptomatic	NA	Castoldi et al 2000A
586	NA	F	NA	55	NA	50	NA	Heterozygous		Asymptomatic	NA	Castoldi et al 2000A
587	NA	M	NA	64	NA	56	NA	Heterozygous		Asymptomatic	NA	Castoldi et al 2000A
588	NA	F	NA	40	NA	45	NA	Heterozygous		Asymptomatic	NA	Castoldi et al 2000A
589	NA	F	NA	0	NA	NA	NA	Heterozygous		Severe	gum bleeding from age 3; post-traumatic hemarthrosis age 8, recurrent menorrhagia age 15	Castoldi et al 2001
590	NA	M	NA	30	NA	NA	NA	Heterozygous		Asymptomatic	bleeding after tonsillectinomy	Castoldi et al 2001
591	NA	M	NA	50	NA	50	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	recurrent thromboses; pseudohomozygous APC resistance	Castoldi et al 2001
592	NA	M	NA	0	NA	<1	NA	Heterozygous	c.4900C>T (p.Arg1634*)	Severe	muscle hematomas and hemarthroses spontaneously or after minor trauma; gum bleeding	Montefusco et al 2003
593	NA	F	NA	58	NA	63	NA	Heterozygous		Asymptomatic	NA	Montefusco et al 2003
594	NA	N	NA	45	NA	44	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	VTE	Simioni et al 2005
595	NA	M	NA	50	NA	50	NA	Heterozygous		Asymptomatic	NA	Talbot et al 2010
596	NA	F	NA	0	NA	<3	NA	Heterozygous	c.1042_1049del (p.Lys348Glyfs*32)	Severe	soft tissue bleeds of the mouth, epistaxis	van Wijk et al 2001A
597	NA	F	NA	<3	NA	<1	NA	Heterozygous	c.1852dupC (p.Gln618Profs*3)	Asymptomatic	recurrent epistaxis, joint haematoma	Yamakage et al 2006

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: