Factor V Variant Database

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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.5693C>T

p.Thr1898Met (Legacy AA No. 1870)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 18

Mutation Effect:

Missense

Codon Change:

5693C>T

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

282556

Allele Frequency *:

0.000025

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
371	NA	M	NA	10	NA	NA	NA	Heterozygous	c.2862delT (p.Ser955Alafs*4)	Mild	haematoma; epistaxis	Delev et al 2009
669	NA	M	NA	26	NA	NA	NA	Homozygous		Asymptomatic	NA	Delev et al 2009
670	NA	M	NA	10	NA	NA	NA	Heterozygous	c.2862delT (p.Ser955Alafs*4)	Mild	haematoma; epistaxis	Delev et al 2009

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5717-12T>A

NA (Legacy AA No. NA)

Mutation Type:

Point

Domain:

Intron

Location:

Intron 18

Mutation Effect:

Intronic

Codon Change:

5717-12T>A

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Lunghi et al 2008
GI, gum, joint & muscle 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
671	NA	M	NA	<1	NA	NA	NA	Homozygous		Severe	GI, gum, joint & muscle bleeds	Lunghi et al 2008

Structural Interpretation:

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

c.5723G>A

p.Arg1908Lys (Legacy AA No. 1880)

Mutation Type:

Point

Domain:

d5C1

Location:

Exon 19

Mutation Effect:

Missense

Codon Change:

5723G>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

264

Allele Number *:

282114

Allele Frequency *:

0.000936

References and Comments:

NCBI Clinvar Variation ID: 709012
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
672	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 709012

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5729C>T

p.Pro1910Leu (Legacy AA No. 1882)

Mutation Type:

Point

Domain:

d5C1

Location:

Exon 19

Mutation Effect:

Missense

Codon Change:

5729C>T

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

250856

Allele Frequency *:

0.000024

References and Comments:

NCBI Clinvar Variation ID: 876651
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
673	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 876651

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5752delA

p.Ile1918Tyrfs*19 (Legacy AA No. 1890)

Mutation Type:

Deletion

Domain:

d5C1

Location:

Exon 19

Mutation Effect:

Frameshift

Codon Change:

5752delA

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Paraboschi et al 2012
GI bleeding after birth requiring fresh-frozen plasma; heterozygous for p.Met2148Thr

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
56	NA	M	NA	0	NA	<1	NA	Heterozygous	c.479C>G (p.Pro160Arg)	Severe	GI bleeding following birth treated with fresh-frozen plasma; heterozygous for p.Met2148Thr	Paraboschi et al 2012
674	NA	M	NA	<1	NA	<1	NA	Heterozygous	c.479C>G (p.Pro160Arg)	Severe	GI bleeding after birth requiring fresh-frozen plasma; heterozygous for p.Met2148Thr	Paraboschi et al 2012
675	NA	F	NA	25	NA	26	NA	Heterozygous	c.6443T>C (p.Met2148Thr)	Asymptomatic	NA	Paraboschi et al 2012
774	NA	F	NA	25	NA	26	NA	Heterozygous	c.6443T>C (p.Met2148Thr)	Asymptomatic	NA	Paraboschi et al 2012

Structural Interpretation:

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

c.5764C>T

p.Gln1922* (Legacy AA No. 1894)

Mutation Type:

Point

Domain:

d5C1

Location:

Exon 19

Mutation Effect:

Nonsense

Codon Change:

5764C>T

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

thrombosis

Allele Count *:

Allele Number *:

251064

Allele Frequency *:

0.000004

References and Comments:

Simioni et al 2005
VTE

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
235	NA	N	NA	51	NA	46	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	VTE	Simioni et al 2005
676	NA	N	NA	51	NA	46	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	VTE	Simioni et al 2005

Structural Interpretation:

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

c.5765A>C

p.Gln1922Pro (Legacy AA No. 1894)

Mutation Type:

Point

Domain:

d5C1

Location:

Exon 19

Mutation Effect:

Missense

Codon Change:

5765A>C

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Paraboschi et al 2020
Severe FV deficiency (<13% FV:C)

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
677	NA	N	NA	3	NA	NA	NA	Homozygous		Moderate	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5780A>G

p.Glu1927Gly (Legacy AA No. 1899)

Mutation Type:

Point

Domain:

d5C1

Location:

Exon 19

Mutation Effect:

Missense

Codon Change:

5780A>G

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

NCBI Clinvar Variation ID: 875652
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
678	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 875652

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5788+3A>T

NA (Legacy AA No. NA)

Mutation Type:

Point

Domain:

Intron

Location:

Intron 19

Mutation Effect:

Intronic

Codon Change:

5788+3A>T

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Asselta et al 2003A
bleeding from nose and mouth; extreme bleeding after dental extractions

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
679	NA	M	NA	<1	NA	<1	NA	Homozygous	Severe	bleeding from nose and mouth; extreme bleeding after dental extractions	Asselta et al 2003A
680	NA	F	NA	40	NA	35	NA	Heterozygous	Asymptomatic	NA	Asselta et al 2003A
681	NA	M	NA	85	NA	90	NA	Heterozygous	Asymptomatic	NA	Asselta et al 2003A

Structural Interpretation:

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

c.5789-12_5789-11delinsAA

NA (Legacy AA No. NA)

Mutation Type:

Indel

Domain:

Intron

Location:

Intron 19

Mutation Effect:

Intronic

Codon Change:

5789-12_5789-11delins

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Paraboschi et al 2019
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
568	NA	F	NA	5	NA	NA	NA	Heterozygous	c.5090A>G (p.Asp1697Gly)	Moderate	tooth extractions done under prophylactic treatment, but bleeding still occurred; two pregnancies (no complications)	Paraboschi et al 2019
683	NA	F	NA	5	NA	NA	NA	Heterozygous	c.5090A>G (p.Asp1697Gly)	Moderate	NA	Paraboschi et al 2019

Structural Interpretation:

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

c.5789-5T>G

NA (Legacy AA No. NA)

Mutation Type:

Point

Domain:

Intron

Location:

Intron 19

Mutation Effect:

Intronic

Codon Change:

5789-5T>G

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Paraboschi et al 2019
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
682	NA	F	NA	4	NA	NA	NA	Homozygous		Moderate	NA	Paraboschi et al 2019

Structural Interpretation:

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

c.5789G>A

p.Gly1930Asp (Legacy AA No. 1902)

Mutation Type:

Point

Domain:

d5C1

Location:

Exon 20

Mutation Effect:

Missense

Codon Change:

5789G>A

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

281772

Allele Frequency *:

0.000014

References and Comments:

Bafunno et al 2012
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
10	NA	F	NA	59	NA	NA	NA	Heterozygous	c.158+1G>A	Asymptomatic	NA	Bafunno et al 2012
11	NA	F	NA	3	NA	2	NA	Heterozygous	c.158+1G>Ac.6528G>C (p.Lys2176Asn)	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
12	NA	F	NA	55	NA	53	NA	Heterozygous	c.158+1G>A	Asymptomatic	antifibrinolytic treatment required following implantology surgery	Paraboschi et al 2019
684	NA	M	NA	0	NA	NA	NA	Heterozygous	c.158+1G>Ac.6212G>T (p.Gly2071Val)	Severe	recurrent epistaxis	Bafunno et al 2012
685	NA	F	NA	59	NA	NA	NA	Heterozygous	c.158+1G>A	Asymptomatic	NA	Bafunno et al 2012
686	NA	F	NA	3	NA	2	NA	Heterozygous	c.158+1G>Ac.6528G>C (p.Lys2176Asn)	Moderate	knee cyst removal caused bleeding and anaemia (no treatment used); two premature pregnancies	Paraboschi et al 2019
687	NA	F	NA	55	NA	53	NA	Heterozygous	c.158+1G>A	Asymptomatic	NA	Paraboschi et al 2019
732	NA	M	NA	0	NA	NA	NA	Heterozygous	c.158+1G>Ac.6212G>T (p.Gly2071Val)	Severe	recurrent epistaxis	Bafunno et al 2012
781	NA	F	NA	3	NA	2	NA	Heterozygous	c.158+1G>Ac.6528G>C (p.Lys2176Asn)	Moderate	knee cyst removal on knee resulting in post-surgery bleeding and consequent anaemia (no treatment used); two premature pregnancies	Paraboschi et al 2019
9	NA	M	NA	<1	NA	NA	NA	Heterozygous	c.158+1G>Ac.6212G>T (p.Gly2071Val)	Severe	recurrent epistaxis	Bafunno et al 2012

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5807T>A

p.Leu1936* (Legacy AA No. 1908)

Mutation Type:

Point

Domain:

d5C1

Location:

Exon 20

Mutation Effect:

Nonsense

Codon Change:

5807T>A

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Paraboschi et al 2020
Severe FV deficiency (<13% FV:C)

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
688	NA	N	NA	<1	NA	NA	NA	Heterozygous	c.6304C>T (p.Arg2102Cys)	Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
747	NA	N	NA	0	NA	NA	NA	Heterozygous	c.6304C>T (p.Arg2102Cys)	Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020

Structural Interpretation:

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

c.5842T>C

p.Trp1948Arg (Legacy AA No. 1920)

Mutation Type:

Point

Domain:

d5C1

Location:

Exon 20

Mutation Effect:

Missense

Codon Change:

5842T>C

No. of Patients Reported:

Phenotype:

Mild

Association:

thrombosis

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Nogami et al 2014
DVT with swelling of lower body; more APC resistance compared to FV Leiden

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
689	NA	M	NA	10	NA	40	NA	Homozygous	Mild	DVT with swelling of lower body; more APC resistance compared to FV Leiden	Nogami et al 2014
690	NA	M	NA	74	NA	74	NA	Heterozygous	Asymptomatic	NA	Nogami et al 2014
691	NA	F	NA	88	NA	75	NA	Heterozygous	Asymptomatic	NA	Nogami et al 2014

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5900T>A

p.Met1967Lys (Legacy AA No. 1939)

Mutation Type:

Point

Domain:

d5C1

Location:

Exon 21

Mutation Effect:

Missense

Codon Change:

5900T>A

No. of Patients Reported:

Phenotype:

Mild

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
532	NA	M	NA	10	NA	NA	NA	Heterozygous	c.4746_4748delTTA (p.Tyr1583del)	Mild	NA	Delev et al 2009
692	NA	M	NA	10	NA	NA	NA	Heterozygous	c.4746_4748delTTA (p.Tyr1583del)	Mild	NA	Delev et al 2009

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5923G>C

p.Gly1975Arg (Legacy AA No. 1947)

Mutation Type:

Point

Domain:

d5C1

Location:

Exon 21

Mutation Effect:

Missense

Codon Change:

5923G>C

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

282550

Allele Frequency *:

0.000131

References and Comments:

NCBI Clinvar Variation ID: 873759
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
693	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 873759

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5933C>T

p.Thr1978Ile (Legacy AA No. 1950)

Mutation Type:

Point

Domain:

d5C1

Location:

Exon 21

Mutation Effect:

Missense

Codon Change:

5933C>T

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

251218

Allele Frequency *:

0.000004

References and Comments:

NCBI Clinvar Variation ID: 873758
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
694	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 873758

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5941G>T

p.Ala1981Ser (Legacy AA No. 1953)

Mutation Type:

Point

Domain:

d5C1

Location:

Exon 21

Mutation Effect:

Missense

Codon Change:

5941G>T

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

NCBI Clinvar Variation ID: 1013260
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
695	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1013260

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5959T>C

p.Ser1987Pro (Legacy AA No. 1959)

Mutation Type:

Point

Domain:

d5C1

Location:

Exon 21

Mutation Effect:

Missense

Codon Change:

5959T>C

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

NCBI Clinvar Variation ID: 1301605
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
696	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1301605

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5993G>T

p.Ser1998Ile (Legacy AA No. 1970)

Mutation Type:

Point

Domain:

d5C1

Location:

Exon 21

Mutation Effect:

Missense

Codon Change:

5993G>T

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Paraboschi et al 2020
haemarthrosis affecting hip and elbow

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
697	NA	N	NA	35	NA	28	NA	Heterozygous		Asymptomatic	haemarthrosis affecting hip and elbow	Paraboschi et al 2020

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.6008A>G

p.Asn2003Ser (Legacy AA No. 1975)

Mutation Type:

Point

Domain:

d5C1

Location:

Exon 21

Mutation Effect:

Missense

Codon Change:

6008A>G

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

251260

Allele Frequency *:

0.000004

References and Comments:

NCBI Clinvar Variation ID: 806267
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
698	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 806267

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.6010T>C

p.Trp2004Arg (Legacy AA No. 1976)

Mutation Type:

Point

Domain:

d5C1

Location:

Exon 21

Mutation Effect:

Missense

Codon Change:

6010T>C

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Al-Numair et al 2019
severe menorrhagia and spontaneous epistaxis

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
699	NA	F	NA	0	NA	NA	NA	Homozygous	Severe	severe menorrhagia and spontaneous epistaxis	Al-Numair et al 2019
700	NA	M	NA	46	NA	NA	NA	Heterozygous	Asymptomatic	NA	Al-Numair et al 2019
701	NA	F	NA	47	NA	NA	NA	Heterozygous	Asymptomatic	mild menorrhagia and epistaxis	Al-Numair et al 2019

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.6025G>A

p.Gly2009Arg (Legacy AA No. 1981)

Mutation Type:

Point

Domain:

d5C1

Location:

Exon 21

Mutation Effect:

Missense

Codon Change:

6025G>A

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Frotscher et al 2012
GI bleeding at age 3 weeks and other minor 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
702	NA	M	NA	0	NA	<1	NA	Heterozygous	c.698C>G (p.Thr233Arg)	Severe	GI bleeding at age 3 weeks and other minor bleeds	Frotscher et al 2012
703	NA	M	NA	0	NA	<1	NA	Heterozygous	c.698C>G (p.Thr233Arg)	Severe	umbilical cord bleed at birth	Frotscher et al 2012
704	NA	M	NA	50	NA	NA	NA	Heterozygous		Asymptomatic	NA	Frotscher et al 2012
81	NA	M	NA	0	NA	<1	NA	Heterozygous	c.698C>G (p.Thr233Arg)	Severe	GI bleeding at age 3 weeks and additional minor bleeds	Frotscher et al 2012
82	NA	M	NA	0	NA	<1	NA	Heterozygous	c.698C>G (p.Thr233Arg)	Severe	umbilical cord bleed at birth; spontaneous left knee haemarthrosis; subdural and extradural haematoma	Frotscher et al 2012

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.6027_6032delGAACAG

p.Asn2010_Ser2011del (Legacy AA No. 1982)

Mutation Type:

Deletion

Domain:

d5C1

Location:

Exon 21

Mutation Effect:

Inframe

Codon Change:

6027_6032delGAACAG

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Kanaji et al 2009
age 64, consanguineous parents

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
438	NA	M	NA	4	NA	3	NA	Heterozygous	c.3481C>T (p.Arg1161*)	Moderate	prolonged bleeding after tooth extraction	Song et al 2009
439	NA	M	NA	5	NA	NA	NA	Heterozygous	c.3481C>T (p.Arg1161*)	Moderate	bleeding after tooth extraction	Song et al 2009
705	NA	F	NA	<1	NA	<2	NA	Homozygous		Severe	age 64, consanguineous parents	Kanaji et al 2009
706	NA	F	NA	3	NA	NA	NA	Heterozygous	c.6604C>T (p.Arg2202Cys)	Moderate	easy bruising	Park et al 2016
707	NA	F	NA	39	NA	NA	NA	Heterozygous		Asymptomatic	suspected haematoma	Park et al 2016
708	NA	M	NA	5	NA	NA	NA	Heterozygous	c.3481C>T (p.Arg1161*)	Moderate	bleeding after tooth extraction	Song et al 2009
709	NA	F	NA	50	NA	37	NA	Heterozygous		Asymptomatic	NA	Song et al 2009
710	NA	M	NA	4	NA	3	NA	Heterozygous	c.3481C>T (p.Arg1161*)	Moderate	prolonged bleeding after tooth extraction	Song et al 2009
790	NA	F	NA	3	NA	NA	NA	Heterozygous	c.6604C>T (p.Arg2202Cys)	Moderate	easy bruising	Park et al 2016

Structural Interpretation:

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

6028_6032dupAACAG

p.Ser2011Argfs*7 (Legacy AA No. 1983)

Mutation Type:

Duplication

Domain:

d5C1

Location:

Exon 21

Mutation Effect:

Frameshift

Codon Change:

6028_6032dupAACAG

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Montefusco et al 2003
repeated traumatic hemorrhages requiring fresh-frozen plasma

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
394	NA	F	NA	<1	NA	<1	NA	Heterozygous	c.3088C>T (p.Arg1030*)	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
711	NA	F	NA	<1	NA	<1	NA	Heterozygous	c.3088C>T (p.Arg1030*)	Severe	repeated traumatic hemorrhages requiring fresh-frozen plasma	Montefusco et al 2003
712	NA	F	NA	57	NA	67	NA	Heterozygous		Asymptomatic	NA	Montefusco et al 2003
713	NA	F	NA	47	NA	60	NA	Heterozygous		Asymptomatic	NA	Montefusco et al 2003

Structural Interpretation:

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

c.6048+1G>A

NA (Legacy AA No. NA)

Mutation Type:

Point

Domain:

Intron

Location:

Intron 21

Mutation Effect:

Intronic

Codon Change:

6048+1G>A

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Dall'osso et al 2008
intracranial bleeding with severe hypertension

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
393	NA	M	NA	<1	NA	<1	NA	Heterozygous	c.3088C>T (p.Arg1030*)	Severe	intracranial bleeding and severe hypertension	Dall'osso et al 2008
714	NA	M	NA	<1	NA	<1	NA	Heterozygous	c.3088C>T (p.Arg1030*)	Severe	intracranial bleeding with severe hypertension	Dall'osso et al 2008

Structural Interpretation:

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

c.6100C>G

p.Pro2034Ala (Legacy AA No. 2006)

Mutation Type:

Point

Domain:

d5C1

Location:

Exon 22

Mutation Effect:

Missense

Codon Change:

6100C>G

No. of Patients Reported:

Phenotype:

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Huang et al 2010
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
715	NA	N	NA	low	NA	low	NA	Homozygous		NA	NA	Huang et al 2010

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.6139C>T

p.Arg2047* (Legacy AA No. 2019)

Mutation Type:

Point

Domain:

d5C1

Location:

Exon 22

Mutation Effect:

Nonsense

Codon Change:

6139C>T

No. of Patients Reported:

Phenotype:

Mild

Association:

FV Deficiency

Allele Count *:

Allele Number *:

282438

Allele Frequency *:

0.000025

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
574	NA	M	NA	6	NA	NA	NA	Heterozygous	c.5176C>T (p.Arg1726Trp)	Mild	NA	Delev et al 2009
716	NA	M	NA	6	NA	NA	NA	Heterozygous	c.5176C>T (p.Arg1726Trp)	Mild	NA	Delev et al 2009

Structural Interpretation:

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

c.6157_6161delACCCT

p.Thr2053Serfs*8 (Legacy AA No. 2025)

Mutation Type:

Deletion

Domain:

d5C1

Location:

Exon 22

Mutation Effect:

Frameshift

Codon Change:

6157_6161delACCCT

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Shinozawa et al 2007
epistaxis, easy bruising, and hemarthroses

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
650	NA	F	NA	0	NA	9	NA	Heterozygous	c.5521G>A (p.Val1841Met)	Severe	epistaxis, easy bruising, and hemarthroses	Shinozawa et al 2007
717	NA	F	NA	<1	NA	9	NA	Heterozygous	c.5521G>A (p.Val1841Met)	Severe	epistaxis, easy bruising, and hemarthroses	Shinozawa et al 2007
718	NA	M	NA	58	NA	57	NA	Heterozygous		Asymptomatic	NA	Shinozawa et al 2007

Structural Interpretation:

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

c.6164G>A

p.Arg2055Gln (Legacy AA No. 2027)

Mutation Type:

Point

Domain:

d5C1

Location:

Exon 22

Mutation Effect:

Missense

Codon Change:

6164G>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

NCBI Clinvar Variation ID: 293576
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
719	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293576
720	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293576

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.6175C>T

p.Gln2059* (Legacy AA No. 2031)

Mutation Type:

Point

Domain:

d5C1

Location:

Exon 22

Mutation Effect:

Nonsense

Codon Change:

6175C>T

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Wang et al 2014
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
721	NA	M	NA	52	NA	37	NA	Heterozygous	Asymptomatic	NA	Wang et al 2014
722	NA	F	NA	47	NA	31	NA	Heterozygous	Asymptomatic	NA	Wang et al 2014
723	NA	M	NA	48	NA	38	NA	Heterozygous	Asymptomatic	NA	Wang et al 2014
724	NA	M	NA	47	NA	39	NA	Heterozygous	Asymptomatic	NA	Wang et al 2014
725	NA	M	NA	26	NA	20	NA	Heterozygous	Asymptomatic	easy bruising in the lower limbs; also has heterozygous polymorphism Arg513Lys	Wang et al 2014
726	NA	M	NA	24	NA	22	NA	Heterozygous	Asymptomatic	NA	Wang et al 2014

Structural Interpretation:

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

c.6179G>A

p.Gly2060Asp (Legacy AA No. 2032)

Mutation Type:

Point

Domain:

d5C1

Location:

Exon 22

Mutation Effect:

Missense

Codon Change:

6179G>A

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

thrombosis

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Asselta et al 2004
retinal vein thrombosis

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
207	NA	F	NA	65	NA	53	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	retinal vein thrombosis	Asselta et al 2004
208	NA	F	NA	50	NA	39	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	NA	Asselta et al 2004
209	NA	F	NA	47	NA	46	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	NA	Asselta et al 2004
727	NA	F	NA	65	NA	53	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	retinal vein thrombosis	Asselta et al 2004
728	NA	F	NA	50	NA	39	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	NA	Asselta et al 2004
729	NA	F	NA	47	NA	46	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	NA	Asselta et al 2004

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.6182G>A

p.Cys2061Tyr (Legacy AA No. 2033)

Mutation Type:

Point

Domain:

d5C1

Location:

Exon 22

Mutation Effect:

Missense

Codon Change:

6182G>A

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

251188

Allele Frequency *:

0.000004

References and Comments:

Paraboschi et al 2020
abdominal blood stagnation and haematoma following vitamin K injection at birth

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
301	NA	N	NA	2	NA	2	NA	Heterozygous	c.2218C>T (p.Arg740*)	Moderate	abdominal blood stagnation and haematoma following vitamin K injection at birth	Paraboschi et al 2020
730	NA	N	NA	2	NA	2	NA	Heterozygous	c.2218C>T (p.Arg740*)	Moderate	abdominal blood stagnation and haematoma following vitamin K injection at birth	Paraboschi et al 2020

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.6197G>A

p.Cys2066Tyr (Legacy AA No. 2038)

Mutation Type:

Point

Domain:

d5C2

Location:

Exon 23

Mutation Effect:

Missense

Codon Change:

6197G>A

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Paraboschi et al 2020
Severe FV deficiency (<13% FV:C)

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.6305G>A (p.Arg2102His)	Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
753	NA	N	NA	0	NA	3	NA	Heterozygous	c.6305G>A (p.Arg2102His)	Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.6212delG

p.Gly2071Valfs*7 (Legacy AA No. 2043)

Mutation Type:

Deletion

Domain:

d5C2

Location:

Exon 23

Mutation Effect:

Frameshift

Codon Change:

6212delG

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

thrombosis

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Simioni et al 2005
VTE

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
231	NA	N	NA	61	NA	51	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	VTE	Simioni et al 2005
734	NA	N	NA	61	NA	51	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	VTE	Simioni et al 2005

Structural Interpretation:

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

c.6212G>T

p.Gly2071Val (Legacy AA No. 2043)

Mutation Type:

Point

Domain:

d5C2

Location:

Exon 23

Mutation Effect:

Missense

Codon Change:

6212G>T

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Bafunno et al 2012
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
684	NA	M	NA	0	NA	NA	NA	Heterozygous	c.158+1G>Ac.5789G>A (p.Gly1930Asp)	Severe	recurrent epistaxis	Bafunno et al 2012
732	NA	M	NA	0	NA	NA	NA	Heterozygous	c.158+1G>Ac.5789G>A (p.Gly1930Asp)	Severe	recurrent epistaxis	Bafunno et al 2012
733	NA	M	NA	64	NA	NA	NA	Heterozygous		Asymptomatic	NA	Bafunno et al 2012
9	NA	M	NA	<1	NA	NA	NA	Heterozygous	c.158+1G>Ac.5789G>A (p.Gly1930Asp)	Severe	recurrent epistaxis	Bafunno et al 2012

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.6241C>G

p.Gln2081Glu (Legacy AA No. 2053)

Mutation Type:

Point

Domain:

d5C2

Location:

Exon 23

Mutation Effect:

Missense

Codon Change:

6241C>G

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

251262

Allele Frequency *:

0.000008

References and Comments:

NCBI Clinvar Variation ID: 875605
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
735	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 875605

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.6257C>A

p.Ser2086* (Legacy AA No. 2058)

Mutation Type:

Point

Domain:

d5C2

Location:

Exon 23

Mutation Effect:

Nonsense

Codon Change:

6257C>A

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

251278

Allele Frequency *:

0.000016

References and Comments:

Cutler et al 2010
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
629	NA	N	NA	0	NA	NA	NA	Heterozygous	c.5408A>G (p.His1803Arg)	Severe	NA	Cutler et al 2010
736	NA	N	NA	<1	NA	NA	NA	Heterozygous	c.5408A>G (p.His1803Arg)	Severe	NA	Cutler et al 2010

Structural Interpretation:

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

c.6293C>G

p.Pro2098Arg (Legacy AA No. 2070)

Mutation Type:

Point

Domain:

d5C2

Location:

Exon 23

Mutation Effect:

Missense

Codon Change:

6293C>G

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Paraboschi et al 2020
Severe FV deficiency (<13% FV:C)

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
737	NA	N	NA	0	NA	NA	NA	Homozygous		Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.6293C>T

p.Pro2098Leu (Legacy AA No. 2070)

Mutation Type:

Point

Domain:

d5C2

Location:

Exon 23

Mutation Effect:

Missense

Codon Change:

6293C>T

No. of Patients Reported:

Phenotype:

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Asselta et al 2003B
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
738	NA	F	NA	NA	NA	NA	NA	Homozygous		NA	NA	Asselta et al 2003B

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.6298C>T

p.Arg2100Cys (Legacy AA No. 2072)

Mutation Type:

Point

Domain:

d5C2

Location:

Exon 23

Mutation Effect:

Missense

Codon Change:

6298C>T

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

251130

Allele Frequency *:

0.00004

References and Comments:

NCBI Clinvar Variation ID: 875604
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
739	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 875604

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.6304C>T

p.Arg2102Cys (Legacy AA No. 2074)

Mutation Type:

Point

Domain:

d5C2

Location:

Exon 23

Mutation 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)

Mutation Type:

Point

Domain:

d5C2

Location:

Exon 23

Mutation 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.

c.6320G>T

p.Gly2107Val (Legacy AA No. 2079)

Mutation Type:

Point

Domain:

d5C2

Location:

Exon 23

Mutation Effect:

Missense

Codon Change:

6320G>T

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Cao et al 2011
severe recurrent spontaneous epistaxis requiring blood transfusion

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
291	NA	M	NA	<1	NA	2	NA	Heterozygous	c.2149_2150delGA (p.Asp717*)	Severe	bruising and gum bleeding; GI bleeding requiring fresh frozen plasma	Fu QH et al 2004
293	NA	N	NA	<1	NA	2	NA	Heterozygous	c.2149_2150delGA (p.Asp717*)	Severe	NA	Zhou et al 2005
756	NA	M	NA	2	NA	2	NA	Homozygous		Moderate	severe recurrent spontaneous epistaxis requiring blood transfusion	Cao et al 2011
757	NA	M	NA	65	NA	54	NA	Heterozygous		Asymptomatic	NA	Cao et al 2011
758	NA	F	NA	78	NA	62	NA	Heterozygous		Asymptomatic	NA	Cao et al 2011
759	NA	M	NA	0	NA	2	NA	Heterozygous	c.2149_2150delGA (p.Asp717*)	Severe	recurrent epistaxis, easy bruising and gum bleeding; GI bleeding requiring fresh frozen plasma infusion	Fu QH et al 2004
760	NA	M	NA	54	NA	50	NA	Heterozygous		Asymptomatic	NA	Fu QH et al 2004
761	NA	N	NA	0	NA	2	NA	Heterozygous	c.2149_2150delGA (p.Asp717*)	Severe	NA	Zhou et al 2005
762	NA	N	NA	low	NA	low	NA	Not reported		NA	NA	Cao et al 2008

Structural Interpretation:

Please click HERE for in-depth variant analysis.

p.Gln1598* (Legacy AA No. 1570)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 14

Mutation Effect:

Nonsense

Codon Change:

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

250608

Allele Frequency *:

0.000004

References and Comments:

Brodard et al 2020
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
533	NA	N	NA	<5	NA	NA	NA	NA		Asymptomatic	NA	Brodard et al 2020
534	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	Brodard et al 2020

Structural Interpretation:

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

c.6376G>T

p.Asp2126Tyr (Legacy AA No. 2098)

Mutation Type:

Point

Domain:

d5C2

Location:

Exon 24

Mutation Effect:

Missense

Codon Change:

6376G>T

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Delev et al 2008
age 65

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
764	NA	M	NA	4	NA	NA	NA	Homozygous		Moderate	age 65	Delev et al 2008
765	NA	M	NA	3	NA	NA	NA	Homozygous		Moderate	bleeding after invasive procedures	Delev et al 2009

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.6401C>T

p.Thr2134Met (Legacy AA No. 2106)

Mutation Type:

Point

Domain:

d5C2

Location:

Exon 24

Mutation Effect:

Missense

Codon Change:

6401C>T

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

282186

Allele Frequency *:

0.000216

References and Comments:

NCBI Clinvar Variation ID: 1049414
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
766	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1049414

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.6419G>A

p.Gly2140Asp (Legacy AA No. 2112)

Mutation Type:

Point

Domain:

d5C2

Location:

Exon 24

Mutation Effect:

Missense

Codon Change:

6419G>A

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

250984

Allele Frequency *:

0.000004

References and Comments:

Duckers et al 2010
mild menorrhagia; postpartum haemorrhage needing fresh frozen plasma

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
232	NA	N	NA	56	NA	59	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	VTE	Simioni et al 2005
767	NA	F	NA	4	NA	10	NA	Homozygous		Moderate	mild menorrhagia; postpartum haemorrhage needing fresh frozen plasma	Duckers et al 2010
768	NA	N	NA	60	NA	65	NA	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
769	NA	N	NA	56	NA	59	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	VTE	Simioni et al 2005

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.6443T>C

p.Met2148Thr (Legacy AA No. 2120)

Mutation Type:

Point

Domain:

d5C2

Location:

Exon 24

Mutation Effect:

Missense

Codon Change:

6443T>C

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

8629

Allele Number *:

282418

Allele Frequency *:

0.030554

References and Comments:

Al-Numair et al 2019
mild menorrhagia

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
115	NA	N	NA	13	NA	18	NA	Heterozygous	c.1021C>T (p.Arg341Cys)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
130	NA	F	NA	44	NA	NA	NA	Heterozygous	c.1118+5G>T	Asymptomatic	mild menorrhagia	Al-Numair et al 2019
131	NA	F	NA	35	NA	NA	NA	Heterozygous	c.1118+5G>T	Asymptomatic	mild menorrhagia; heterozygous for p.(Met2148Thr)	Al-Numair et al 2019
132	NA	F	NA	32	NA	NA	NA	Heterozygous	c.1118+5G>T	Asymptomatic	bleeding after invasive procedure, epistaxis, anaemia; heterozgous for p.(Met2148Thr)	Al-Numair et al 2019
133	NA	F	NA	35	NA	NA	NA	Heterozygous	c.1118+5G>T	Asymptomatic	mild bleeding, mild epistaxis and bruising; heterozgous for p.(Met2148Thr)	Al-Numair et al 2019
168	NA	N	NA	28	NA	31	NA	Heterozygous	c.1309A>G (p.Asn437Asp)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
675	NA	F	NA	25	NA	26	NA	Heterozygous	c.5752delA (p.Ile1918Tyrfs*19)	Asymptomatic	NA	Paraboschi et al 2012
770	NA	F	NA	44	NA	NA	NA	Heterozygous	c.1118+5G>T	Asymptomatic	mild menorrhagia	Al-Numair et al 2019
771	NA	F	NA	35	NA	NA	NA	Heterozygous	c.1118+5G>T	Asymptomatic	mild menorrhagia; heterozygous for p.(Met2148Thr) polymorphism	Al-Numair et al 2019
772	NA	F	NA	32	NA	NA	NA	Heterozygous	c.1118+5G>T	Asymptomatic	bleeding after procedure, spontaneous epistaxis, anaemia; heterozgous for p.(Met2148Thr) polymorphism	Al-Numair et al 2019
773	NA	F	NA	35	NA	NA	NA	Heterozygous	c.1118+5G>T	Asymptomatic	mild bleeding symptoms, mild epistaxis; heterozgous for p.(Met2148Thr) polymorphism	Al-Numair et al 2019
774	NA	F	NA	25	NA	26	NA	Heterozygous	c.5752delA (p.Ile1918Tyrfs*19)	Asymptomatic	NA	Paraboschi et al 2012
775	NA	N	NA	40	NA	32	NA	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
776	NA	N	NA	13	NA	18	NA	Heterozygous	c.1021C>T (p.Arg341Cys)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
777	NA	N	NA	28	NA	31	NA	Heterozygous	c.1309A>G (p.Asn437Asp)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
778	NA	B	NA	NA	NA	NA	NA	Heterozygous		NA	NA	Scanavini et al 2004

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.6492G>C

p.Trp2164Cys (Legacy AA No. 2136)

Mutation Type:

Point

Domain:

d5C2

Location:

Exon 24

Mutation Effect:

Missense

Codon Change:

6492G>C

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Paraboschi et al 2020
hymen rupture needing blood transfusion; menorrhagia, extreme gum 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
779	NA	F	NA	0	NA	<1	NA	Homozygous		Severe	hymen rupture needing blood transfusion; menorrhagia, extreme gum bleeding	Paraboschi et al 2020

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:

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Structural Interpretation:

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Structural Interpretation:

UNIQUE (Without Patient Data) :

EXCEL/CSV

TABULAR

MULTIPLE (With Patient Data) :

EXCEL/CSV

TABULAR