Factor V Variant Database

Search Results: 2 unique variants retrieved

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

c.3088C>T

p.Arg1030* (Legacy AA No. 1002)

Variant Type:

Point

Domain:

d5B

Location:

Exon 13

Variant Effect:

Nonsense

Codon Change:

3088C>T

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

281636

Allele Frequency *:

0.000099

References and Comments:

Delev et al 2009
severe bleeding, 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
177	NA	M	NA	0	NA	NA	NA	Heterozygous	c.1340C>G (p.Pro447Arg)	Severe	melaena, haemarthrosis	Borhany et al 2019
389	NA	M	NA	1	NA	NA	NA	Homozygous		Moderate	severe bleeding, haematoma	Delev et al 2009
390	NA	N	NA	2	NA	NA	NA	Homozygous		Moderate	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
391	NA	F	NA	<1	NA	<1	NA	Homozygous		Severe	subcutaneous and mucosal bleeding, severe menorrhagia	Schrijver et al 2005
392	NA	M	NA	<1	NA	NA	NA	Heterozygous	c.1340C>G (p.Pro447Arg)	Severe	melaena, haemarthrosis	Borhany et al 2019
393	NA	M	NA	<1	NA	<1	NA	Heterozygous	c.6048+1G>A (NA)	Severe	intracranial bleeding and severe hypertension	Dall'osso et al 2008
394	NA	F	NA	<1	NA	<1	NA	Heterozygous	6028_6032dupAACAG (p.Ser2011Argfs*7)	Severe	posttraumatic large frontal hematoma ; repeated traumatic hemorrhages requiring fresh-frozen plasma; severe menorrhagia requiring plasma and red blood cell transfusion	Montefusco et al 2003
395	NA	M	NA	37	NA	46	NA	Heterozygous		Asymptomatic	NA	Montefusco et al 2003
711	NA	F	NA	<1	NA	<1	NA	Heterozygous	6028_6032dupAACAG (p.Ser2011Argfs*7)	Severe	repeated traumatic hemorrhages requiring fresh-frozen plasma	Montefusco et al 2003
714	NA	M	NA	<1	NA	<1	NA	Heterozygous	c.6048+1G>A (NA)	Severe	intracranial bleeding with severe hypertension	Dall'osso et al 2008

Structural Interpretation:

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

c.3089G>A

p.Arg1030Gln (Legacy AA No. 1002)

Variant Type:

Point

Domain:

d5B

Location:

Exon 13

Variant Effect:

Missense

Codon Change:

3089G>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

281636

Allele Frequency *:

0.000099

References and Comments:

NCBI Clinvar Variation ID: 874312
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
396	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 874312

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: