Factor V Variant Database

Search Results: 2 unique variants retrieved

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

c.6304C>T

p.Arg2102Cys (Legacy AA No. 2074)

Variant Type:

Point

Domain:

d5C2

Location:

Exon 23

Variant Effect:

Missense

Codon Change:

6304C>T

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

251106

Allele Frequency *:

0.000008

References and Comments:

Bossone et al 2002
post-traumatic intracranial bleeding

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
22	NA	F	NA	2	NA	<2	NA	Heterozygous	c.286G>C (p.Asp96His)c.524A>G (p.His175Arg)	Moderate	tooth extraction caused severe and prolonged bleeding	Liu et al 2014A
23	NA	F	NA	2	NA	<2	NA	Heterozygous	c.286G>C (p.Asp96His)c.524A>G (p.His175Arg)	Moderate	NA	Liu et al 2014A
58	NA	F	NA	2	NA	<2	NA	Heterozygous	c.286G>C (p.Asp96His)c.524A>G (p.His175Arg)	Moderate	tooth extraction caused severe and prolonged bleeding	Liu et al 2014A
59	NA	F	NA	2	NA	<2	NA	Heterozygous	c.286G>C (p.Asp96His)c.524A>G (p.His175Arg)	Moderate	NA	Liu et al 2014A
60	NA	F	NA	60	NA	75	NA	Heterozygous	c.524A>G (p.His175Arg)	Asymptomatic	NA	Liu et al 2014A
688	NA	N	NA	<1	NA	NA	NA	Heterozygous	c.5807T>A (p.Leu1936*)	Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
740	NA	M	NA	5	NA	14	NA	Homozygous		Moderate	post-traumatic intracranial bleeding	Bossone et al 2002
741	NA	F	NA	4	NA	2	NA	Homozygous		Moderate	easy bruising after minor trauma	Duga et al 2003
742	NA	M	NA	48	NA	100	NA	Heterozygous		Asymptomatic	NA	Duga et al 2003
743	NA	F	NA	54	NA	64	NA	Heterozygous		Asymptomatic	NA	Duga et al 2003
744	NA	F	NA	60	NA	75	NA	Heterozygous	c.524A>G (p.His175Arg)	Asymptomatic	NA	Liu et al 2014A
745	NA	F	NA	2	NA	<2	NA	Heterozygous	c.286G>C (p.Asp96His)c.524A>G (p.His175Arg)	Moderate	prolonged and excessive bleeding after a tooth extraction	Liu et al 2014A
746	NA	F	NA	2	NA	<2	NA	Heterozygous	c.286G>C (p.Asp96His)c.524A>G (p.His175Arg)	Moderate	NA	Liu et al 2014A
747	NA	N	NA	0	NA	NA	NA	Heterozygous	c.5807T>A (p.Leu1936*)	Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
748	NA	N	NA	44	NA	73	NA	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.6305G>A

p.Arg2102His (Legacy AA No. 2074)

Variant Type:

Point

Domain:

d5C2

Location:

Exon 23

Variant Effect:

Missense

Codon Change:

6305G>A

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Schrijver et al 2002A
recurrent epistaxis in early childhood

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
731	NA	N	NA	0	NA	3	NA	Heterozygous	c.6197G>A (p.Cys2066Tyr)	Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
749	NA	M	NA	2	NA	3	NA	Homozygous		Moderate	recurrent epistaxis in early childhood	Schrijver et al 2002A
750	NA	F	NA	<5	NA	6	NA	Homozygous		Asymptomatic	age 6 hospitalized with intractable epistaxis	Schrijver et al 2002A
751	NA	M	NA	<5	NA	3	NA	Homozygous		Asymptomatic	NA	Schrijver et al 2002A
752	NA	F	NA	3	NA	NA	NA	Heterozygous	c.6528+1_+4delGTAG (p.Met2148Ilefs*12)	Moderate	muscular, GI, urogenital, and spleen bleeds	Dall'osso et al 2008
753	NA	N	NA	0	NA	3	NA	Heterozygous	c.6197G>A (p.Cys2066Tyr)	Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
754	NA	M	NA	NA	NA	16	NA	Heterozygous		NA	NA	Schrijver et al 2002A
755	NA	M	NA	NA	NA	NA	NA	Heterozygous		NA	NA	Schrijver et al 2002A
782	NA	F	NA	3	NA	NA	NA	Heterozygous	c.6528+1_+4delGTAG (p.Met2148Ilefs*12)	Moderate	muscular, GI, urogenital, and spleen bleeds	Dall'osso et al 2008

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: