Factor V Variant Database

Data Export Options:

UNIQUE (Without Patient Data) :

EXCEL/CSV

TABULAR

MULTIPLE (With Patient Data) :

EXCEL/CSV

TABULAR

Full List of Variants: 363 unique variants retrieved (displaying 50 entries per page). Scroll down to navigate to the next page(s).

1 2 3 4 5 6 7 8

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

c.6523delG

p.Asp2175Thrfs*14 (Legacy AA No. 2147)

Mutation Type:

Deletion

Domain:

d5C2

Location:

Exon 24

Mutation Effect:

Frameshift

Codon Change:

6523delG

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

thrombosis

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Dargaud et al 2003
pseudohomozygous APC resistance

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
218	NA	F	NA	45	NA	40	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	pseudohomozygous APC resistance	Dargaud et al 2003
780	NA	F	NA	45	NA	40	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	pseudohomozygous APC resistance	Dargaud et al 2003

Structural Interpretation:

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

c.6528+1_+4delGTAG

p.Met2148Ilefs*12 (Legacy AA No. 2120)

Mutation Type:

Deletion

Domain:

d5C2

Location:

Intron 24

Mutation Effect:

Intronic

Codon Change:

6528+1_+4delGTAG

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Dall'osso et al 2008
muscular, GI, urogenital, and spleen bleeds

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
752	NA	F	NA	3	NA	NA	NA	Heterozygous	c.6305G>A (p.Arg2102His)	Moderate	muscular, GI, urogenital, and spleen bleeds	Dall'osso et al 2008
782	NA	F	NA	3	NA	NA	NA	Heterozygous	c.6305G>A (p.Arg2102His)	Moderate	muscular, GI, urogenital, and spleen bleeds	Dall'osso et al 2008

Structural Interpretation:

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

c.6528G>C

p.Lys2176Asn (Legacy AA No. 2148)

Mutation Type:

Point

Domain:

d5C2

Location:

Exon 24

Mutation Effect:

Missense

Codon Change:

6528G>C

No. of Patients Reported:

Phenotype:

Moderate

Association:

thrombosis

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Paraboschi et al 2019
knee cyst removal on knee resulting in post-surgery bleeding and consequent anaemia (no treatment used); two premature pregnancies

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
11	NA	F	NA	3	NA	2	NA	Heterozygous	c.158+1G>Ac.5789G>A (p.Gly1930Asp)	Moderate	ecchymoses; surgery for cyst removal on knee resulting in post-surgery bleeding and consequent anaemia (no treatment used); two pregnancies, both with premature delivery, and in one case post-delivery bleeding (two days after the event; no treatment)	Paraboschi et al 2019
686	NA	F	NA	3	NA	2	NA	Heterozygous	c.158+1G>Ac.5789G>A (p.Gly1930Asp)	Moderate	knee cyst removal caused bleeding and anaemia (no treatment used); two premature pregnancies	Paraboschi et al 2019
781	NA	F	NA	3	NA	2	NA	Heterozygous	c.158+1G>Ac.5789G>A (p.Gly1930Asp)	Moderate	knee cyst removal on knee resulting in post-surgery bleeding and consequent anaemia (no treatment used); two premature pregnancies	Paraboschi et al 2019

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.6529-1G>T

NA (Legacy AA No. NA)

Mutation Type:

Point

Domain:

Intron

Location:

Intron 24

Mutation Effect:

Intronic

Codon Change:

6529G>T

No. of Patients Reported:

Phenotype:

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Maharaj et al 2021
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
783	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	Maharaj et al 2021

Structural Interpretation:

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

c.6554A>G

p.Lys2185Arg (Legacy AA No. 2157)

Mutation Type:

Point

Domain:

d5C2

Location:

Exon 25

Mutation Effect:

Missense

Codon Change:

6554A>G

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

216

Allele Number *:

282058

Allele Frequency *:

0.000766

References and Comments:

NCBI Clinvar Variation ID: 716051
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
784	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 716051

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.6584C>T

p.Pro2195Leu (Legacy AA No. 2167)

Mutation Type:

Point

Domain:

d5C2

Location:

Exon 25

Mutation Effect:

Missense

Codon Change:

6584C>T

No. of Patients Reported:

Phenotype:

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Delev et al 2009
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
785	NA	F	NA	NA	NA	NA	NA	Heterozygous		NA	NA	Delev et al 2009

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.6589A>G

p.Ile2197Val (Legacy AA No. 2169)

Mutation Type:

Point

Domain:

d5C2

Location:

Exon 25

Mutation Effect:

Missense

Codon Change:

6589A>G

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

282322

Allele Frequency *:

0.000071

References and Comments:

NCBI Clinvar Variation ID: 293572
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
786	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293572
787	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293572

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.6604C>T

p.Arg2202Cys (Legacy AA No. 2174)

Mutation Type:

Point

Domain:

d5C2

Location:

Exon 25

Mutation Effect:

Missense

Codon Change:

6604C>T

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

282336

Allele Frequency *:

0.000018

References and Comments:

Al-Numair et al 2019
severe menorrhagia and anaemia

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
706	NA	F	NA	3	NA	NA	NA	Heterozygous	c.6027_6032delGAACAG (p.Asn2010_Ser2011del)	Moderate	easy bruising	Park et al 2016
788	NA	F	NA	0	NA	NA	NA	Homozygous		Severe	severe menorrhagia and anaemia	Al-Numair et al 2019
789	NA	N	NA	low	NA	low	NA	Homozygous		NA	NA	Huang et al 2010
790	NA	F	NA	3	NA	NA	NA	Heterozygous	c.6027_6032delGAACAG (p.Asn2010_Ser2011del)	Moderate	easy bruising	Park et al 2016

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.6605G>T

p.Arg2202Leu (Legacy AA No. 2174)

Mutation Type:

Point

Domain:

d5C2

Location:

Exon 25

Mutation Effect:

Missense

Codon Change:

6605G>T

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Shinozawa et al 2007
very mild bleeding tendency after operation

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
791	NA	M	NA	1	NA	5	NA	Homozygous		Moderate	very mild bleeding tendency after operation	Shinozawa et al 2007

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.6629A>T

p.Gln2210Leu (Legacy AA No. 2182)

Mutation Type:

Point

Domain:

d5C2

Location:

Exon 25

Mutation Effect:

Missense

Codon Change:

6629A>T

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

NCBI Clinvar Variation ID: 293571
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
792	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293571

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.6649G>A

p.Glu2217Lys (Legacy AA No. 2189)

Mutation Type:

Point

Domain:

d5C2

Location:

Exon 25

Mutation Effect:

Missense

Codon Change:

6649G>A

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Paraboschi et al 2020
severe post-injury bleeding; bleeding in toe

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
793	NA	N	NA	12	NA	<1	NA	Homozygous		Asymptomatic	severe post-injury bleeding; bleeding in toe	Paraboschi et al 2020

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.6653T>C

p.Leu2218Pro (Legacy AA No. 2190)

Mutation Type:

Point

Domain:

d5C2

Location:

Exon 25

Mutation Effect:

Missense

Codon Change:

6653T>C

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

251108

Allele Frequency *:

0.000008

References and Comments:

Chapla et al 2011
recurrent epistaxis

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
794	NA	M	NA	0	NA	NA	NA	Homozygous		Severe	recurrent epistaxis	Chapla et al 2011

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.6665A>G

p.Asp2222Gly (Legacy AA No. 2194)

Mutation Type:

Point

Domain:

d5C2

Location:

Exon 25

Mutation Effect:

Missense

Codon Change:

6665A>G

No. of Patients Reported:

Phenotype:

Association:

thrombosis

Allele Count *:

17878

Allele Number *:

282444

Allele Frequency *:

0.063298

References and Comments:

Castoldi et al 2000B
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
795	NA	N	NA	NA	NA	NA	NA	Homozygous	NA	NA	Castoldi et al 2000B
796	NA	M	NA	40	NA	NA	NA	Homozygous	Asymptomatic	NA	Delev et al 2009
797	NA	F	NA	60	NA	NA	NA	Heterozygous	Asymptomatic	bleeding after invasive procedures; hypermenorrhoea	Delev et al 2009
798	NA	M	NA	NA	NA	NA	NA	Heterozygous	NA	NA	Delev et al 2009
799	NA	B	NA	NA	NA	NA	NA	Heterozygous	NA	NA	Scanavini et al 2004
800	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	van der Neut Kolfschoten et al 2003
801	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	Yamazaki et al 2002

Structural Interpretation:

Please click HERE for in-depth variant analysis.

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Factor X Variant Database

Factor V Gene (F5)

Variant Database

Data Export Options:

UNIQUE (Without Patient Data) : EXCEL/CSV TABULAR MULTIPLE (With Patient Data) : EXCEL/CSV TABULAR

Full List of Variants: 363 unique variants retrieved (displaying 50 entries per page). Scroll down to navigate to the next page(s).

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

References and Comments:

Patient Information: Show

Structural Interpretation:

UNIQUE (Without Patient Data) :

EXCEL/CSV

TABULAR

MULTIPLE (With Patient Data) :

EXCEL/CSV

TABULAR