Factor V Variant Database

Search Results: 2 unique variants retrieved

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

c.2862delT

p.Ser955Alafs*4 (Legacy AA No. 927)

Variant Type:

Deletion

Domain:

d5B

Location:

Exon 13

Variant Effect:

Frameshift

Codon Change:

2862delT

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

251108

Allele Frequency *:

0.000036

References and Comments:

Borhany et al 2019
postsurgical bleeding after removal of haemorrhagic cyst

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
187	NA	M	NA	2	NA	NA	NA	Heterozygous	c.1516_1518delTAC (p.Tyr506del)	Moderate	Severe bleeding	Jones et al 2007
361	NA	F	NA	<1	NA	NA	NA	Homozygous		Severe	postsurgical bleeding after removal of haemorrhagic cyst	Borhany et al 2019
362	NA	F	NA	<1	NA	NA	NA	Homozygous		Severe	menorrhagia, gum bleeding, joint pain	Borhany et al 2019
363	NA	M	NA	<1	NA	NA	NA	Homozygous		Severe	postsurgical bleeding after circumcision and bleeding after trauma; knee pain	Borhany et al 2019
364	NA	N	NA	3	NA	NA	NA	Homozygous		Moderate	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
365	NA	N	NA	13	NA	<1	NA	Homozygous		Asymptomatic	umbilical and intracranial hemorrhages (requiring blood transfusion) at birth	Paraboschi et al 2020
366	NA	N	NA	3	NA	NA	NA	Homozygous		Moderate	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
367	NA	N	NA	5	NA	NA	NA	Homozygous		Moderate	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
368	NA	M	NA	<1	NA	1	NA	Heterozygous	c.5403_5404insG (p.Ser1802Valfs*3)	Severe	subdural hematoma at birth; easy bruising and severe hematoma after intramuscular injections	Ajzner et al 2002
369	NA	M	NA	59	NA	62	NA	Heterozygous		Asymptomatic	NA	Ajzner et al 2002
370	NA	F	NA	55	NA	32	NA	Heterozygous		Asymptomatic	NA	Ajzner et al 2002
371	NA	M	NA	10	NA	NA	NA	Heterozygous	c.5693C>T (p.Thr1898Met)	Mild	haematoma; epistaxis	Delev et al 2009
372	NA	F	NA	50	NA	NA	NA	Heterozygous		Asymptomatic	haematoma; epistaxis	Delev et al 2009
373	NA	M	NA	2	NA	NA	NA	Heterozygous	c.1516_1518delTAC (p.Tyr506del)	Moderate	NA	Jones et al 2007
374	NA	M	NA	50	NA	NA	NA	Heterozygous		Asymptomatic	NA	Jones et al 2007
375	NA	N	NA	45	NA	NA	NA	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
376	NA	N	NA	47	NA	NA	NA	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
626	NA	M	NA	<1	NA	1	NA	Heterozygous	c.5403_5404insG (p.Ser1802Valfs*3)	Severe	subdural hematoma at birth; easy bruising	Ajzner et al 2002
670	NA	M	NA	10	NA	NA	NA	Heterozygous	c.5693C>T (p.Thr1898Met)	Mild	haematoma; epistaxis	Delev et al 2009

Structural Interpretation:

Structural analysis cannot be performed on this (Deletion | Frameshift) variant.

c.2864G>T

p.Ser955Ile (Legacy AA No. 927)

Variant Type:

Point

Domain:

d5B

Location:

Exon 13

Variant Effect:

Missense

Codon Change:

2864G>T

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

282484

Allele Frequency *:

0.000198

References and Comments:

NCBI Clinvar Variation ID: 293618
NA

Patient Information: Show

Patient_ID	Age (Yrs)	Gender	Race	FV:C(%)	FV:C (IU/dl)	FV:Ag(%)	FV:Ag (IU/dl)	Inheritance	Severity	Comments	Reference
377	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293618
378	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293618
379	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293618

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: