Factor V Variant Database

Search Results: 1 unique variant retrieved.

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

c.3481C>T

p.Arg1161* (Legacy AA No. 1133)

Variant Type:

Point

Domain:

d5B

Location:

Exon 13

Variant Effect:

Nonsense

Codon Change:

3481C>T

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

251326

Allele Frequency *:

0.000012

References and Comments:

Delev et al 2009
haematoma

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
205	NA	F	NA	<1	NA	<1	NA	Homozygous	c.1601G>A (p.Arg534Gln)	Severe	homozygous for FV Leiden, but nonsense variant in cis rescues	van Wijk et al 2001B
206	NA	M	NA	<1	NA	<1	NA	Homozygous	c.1601G>A (p.Arg534Gln)	Severe	homozygous for FV Leiden, but nonsense variant in cis rescues	van Wijk et al 2001B
431	NA	F	NA	1	NA	NA	NA	Homozygous		Moderate	haematoma	Delev et al 2009
432	NA	F	NA	1	NA	NA	NA	Homozygous		Moderate	haematoma	Delev et al 2009
433	NA	N	NA	<1	NA	NA	NA	Homozygous		Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
434	NA	F	NA	<1	NA	<1	NA	Homozygous	c.1601G>A (p.Arg534Gln)	Severe	NA	van Wijk et al 2001B
435	NA	M	NA	<1	NA	<1	NA	Homozygous	c.1601G>A (p.Arg534Gln)	Severe	NA	van Wijk et al 2001B
436	NA	N	NA	<1	NA	<1	NA	Heterozygous	c.3924_3927delTCAG (p.Ser1308Argfs*24)	Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
437	NA	N	NA	50	NA	45	NA	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
438	NA	M	NA	4	NA	3	NA	Heterozygous	c.6027_6032delGAACAG (p.Asn2010_Ser2011del)	Moderate	prolonged bleeding after tooth extraction	Song et al 2009
439	NA	M	NA	5	NA	NA	NA	Heterozygous	c.6027_6032delGAACAG (p.Asn2010_Ser2011del)	Moderate	bleeding after tooth extraction	Song et al 2009
440	NA	F	NA	45	NA	25	NA	Heterozygous		Asymptomatic	NA	Song et al 2009
441	NA	N	NA	low	NA	low	NA	Not reported		NA	NA	Cao et al 2008
469	NA	N	NA	<1	NA	<1	NA	Heterozygous	c.3924_3927delTCAG (p.Ser1308Argfs*24)	Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
708	NA	M	NA	5	NA	NA	NA	Heterozygous	c.6027_6032delGAACAG (p.Asn2010_Ser2011del)	Moderate	bleeding after tooth extraction	Song et al 2009
710	NA	M	NA	4	NA	3	NA	Heterozygous	c.6027_6032delGAACAG (p.Asn2010_Ser2011del)	Moderate	prolonged bleeding after tooth extraction	Song et al 2009

Structural Interpretation:

Structural analysis cannot be performed on this (Point | Nonsense) variant.

Factor X Variant Database

Factor V Gene (F5)

Variant Database

Search Results: 1 unique variant retrieved.

References and Comments:

Patient Information: Show

Structural Interpretation: