Factor V Variant Database

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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.3642_3643delTC

p.Pro1215Argfs*175 (Legacy AA No. 1187)

Mutation Type:

Deletion

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Frameshift

Codon Change:

3642_3643delTC

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Borhany et al 2019
rectal 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
447	NA	F	NA	<1	NA	NA	NA	Homozygous		Severe	rectal bleeding	Borhany et al 2019

Structural Interpretation:

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

c.3653_3656delTTCA

p.Ile1218Argfs*33 (Legacy AA No. 1190)

Mutation Type:

Deletion

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Frameshift

Codon Change:

3653_3656delTTCA

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Borhany et al 2019
fresh frozen plasma needed after circumcision

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
448	NA	M	NA	<1	NA	NA	NA	Homozygous		Severe	fresh frozen plasma needed after circumcision	Borhany et al 2019

Structural Interpretation:

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

c.3674C>A

p.Ala1225Asp (Legacy AA No. 1197)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

3674C>A

No. of Patients Reported:

Phenotype:

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Baz 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
449	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	Baz et al 2021
450	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1098458

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.3691A>C

p.Ile1231Leu (Legacy AA No. 1203)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

3691A>C

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

NCBI Clinvar Variation ID: 875127
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
451	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 875127

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.3776C>A

p.Ser1259Tyr (Legacy AA No. 1231)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

3776C>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

193

Allele Number *:

282726

Allele Frequency *:

0.000683

References and Comments:

NCBI Clinvar Variation ID: 714099
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
452	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 714099
453	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 714099

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.3799delC

p.Leu1267Phefs*21 (Legacy AA No. 1239)

Mutation Type:

Deletion

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Frameshift

Codon Change:

3799delC

No. of Patients Reported:

Phenotype:

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Asselta et al 2006
gum and nose 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
454	NA	M	NA	NA	NA	<1	NA	Homozygous		NA	gum and nose bleeds	Asselta et al 2006

Structural Interpretation:

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

c.3845A>G

p.His1282Arg (Legacy AA No. 1254)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

3845A>G

No. of Patients Reported:

Phenotype:

Association:

FV Kuwait

Allele Count *:

324

Allele Number *:

282420

Allele Frequency *:

0.001147

References and Comments:

Jadaon et al 2006
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
455	NA	N	NA	NA	NA	NA	NA	Heterozygous		NA	NA	Jadaon et al 2006

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.3851C>T

p.Thr1284Ile (Legacy AA No. 1256)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

3851C>T

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

122

Allele Number *:

282554

Allele Frequency *:

0.000432

References and Comments:

NCBI Clinvar Variation ID: 293603
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
456	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293603
457	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293603
458	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293603

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.3853C>A

p.Leu1285Ile (Legacy AA No. 1257)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

3853C>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

48355

Allele Number *:

280090

Allele Frequency *:

0.172641

References and Comments:

NCBI Clinvar Variation ID: 255205
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
459	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 255205
460	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 255205
461	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 255205
462	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 255205
463	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 255205

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.3865T>C

p.Phe1289Leu (Legacy AA No. 1261)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

3865T>C

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

231138

Allele Frequency *:

0.000004

References and Comments:

NCBI Clinvar Variation ID: 874153
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
464	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 874153

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.3899delA

p.His1300Leufs*2 (Legacy AA No. 1272)

Mutation Type:

Deletion

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Frameshift

Codon Change:

3899delA

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

246242

Allele Frequency *:

0.000004

References and Comments:

Borhany et al 2019
gum bleeding after teeth fall, fresh frozen plasma needed after trauma

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
465	NA	M	NA	1.2	NA	NA	NA	Homozygous		Moderate	gum bleeding after teeth fall, fresh frozen plasma needed after trauma	Borhany et al 2019

Structural Interpretation:

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

c.3924_3927delTCAG

p.Ser1308Argfs*24 (Legacy AA No. 1280)

Mutation Type:

Deletion

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Frameshift

Codon Change:

3924_3927delTCAG

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Guasch et al 1998
severe bleeding from a cut lip; easy bruising

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
436	NA	N	NA	<1	NA	<1	NA	Heterozygous	c.3481C>T (p.Arg1161*)	Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
466	NA	F	NA	<2	NA	<1	NA	Homozygous		Asymptomatic	severe bleeding from a cut lip; easy bruising	Guasch et al 1998
467	NA	M	NA	61	NA	NA	NA	Heterozygous		Asymptomatic	NA	Guasch et al 1998
468	NA	F	NA	48	NA	NA	NA	Heterozygous		Asymptomatic	Excessive bleeding after childbirth	Guasch et al 1998
469	NA	N	NA	<1	NA	<1	NA	Heterozygous	c.3481C>T (p.Arg1161*)	Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020

Structural Interpretation:

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

c.3949G>A

p.Gly1317Ser (Legacy AA No. 1289)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

3949G>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

278226

Allele Frequency *:

0.000075

References and Comments:

NCBI Clinvar Variation ID: 293602
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
470	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293602
471	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293602
472	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293602

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.3952C>A

p.Gln1318Lys (Legacy AA No. 1290)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

3952C>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

123

Allele Number *:

250752

Allele Frequency *:

0.000491

References and Comments:

NCBI Clinvar Variation ID: 875953
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
473	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 875953

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.3961A>C

p.Ile1321Leu (Legacy AA No. 1293)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

3961A>C

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

230976

Allele Frequency *:

0.000052

References and Comments:

NCBI Clinvar Variation ID: 875952
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
474	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 875952

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.3980A>G

p.His1327Arg (Legacy AA No. 1299)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

3980A>G

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

thrombosis

Allele Count *:

15590

Allele Number *:

277490

Allele Frequency *:

0.056182

References and Comments:

Castoldi et al 2004
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
137	NA	N	NA	30	NA	30	NA	Heterozygous	c.1135_1136delCA (p.His379Phefs*3)	Asymptomatic	Mild FV deficiency (>13% FV:C); heterozygous for HR2 haplotype variants	Paraboschi et al 2020
158	NA	F	NA	37	NA	43	NA	Heterozygous	c.1296+268A>G	Asymptomatic	NA	Castoldi et al 2011
2	NA	M	NA	1	NA	NA	NA	Heterozygous	delexon1-7c.1975+5G>A	Moderate	heel pricks and prolonged bleeding, circumcision caused bleeding, bleeding that required a transfusion with blood and fresh-frozen plasma (day 2)	Guella et al 2011
211	NA	F	NA	47	NA	53	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	history of venous thrombosis; pseudohomozygous APC resistance	Castaman et al 1997
212	NA	M	NA	45	NA	52	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	stroke aged 41; pseudohomozygous APC resistance	Castaman et al 1997
214	NA	M	NA	50	NA	48	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	NA	Castaman et al 1997
271	NA	M	NA	1	NA	NA	NA	Heterozygous	delexon1-7c.1975+5G>A	Moderate	bleeding post circumcision, bleeding from umbilical venous catheter that required fresh-frozen plasma	Guella et al 2011
272	NA	M	NA	NA	NA	NA	NA	Heterozygous	c.1975+5G>A	NA	NA	Guella et al 2011
475	NA	M	NA	77	NA	NA	NA	Homozygous		Asymptomatic	NA	Castoldi et al 2004
476	NA	M	NA	80	NA	NA	NA	Homozygous		Asymptomatic	NA	Castoldi et al 2004
477	NA	N	NA	29	NA	NA	NA	Heterozygous	c.5176C>T (p.Arg1726Trp)	Asymptomatic	epistaxis	Calzavarini et al 2013
478	NA	M	NA	45	NA	52	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	stroke aged 41; pseudohomozygous APC resistance	Castaman et al 1997
479	NA	M	NA	55	NA	58	NA	Heterozygous		Asymptomatic	NA	Castaman et al 1997
480	NA	M	NA	50	NA	48	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	pseudohomozygous APC resistance	Castaman et al 1997
481	NA	F	NA	47	NA	53	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	pseudohomozygous APC resistance	Castaman et al 1997
482	NA	F	NA	36	NA	43	NA	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Asymptomatic	DVT and PE	Castoldi et al 2000A
483	NA	F	NA	37	NA	43	NA	Heterozygous	c.1296+268A>G	Asymptomatic	NA	Castoldi et al 2011
484	NA	M	NA	1	NA	NA	NA	Heterozygous	delexon1-7c.1975+5G>A	Moderate	NA	Guella et al 2011
485	NA	M	NA	NA	NA	NA	NA	Heterozygous	c.1975+5G>A	NA	NA	Guella et al 2011
486	NA	N	NA	66	NA	65	NA	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
487	NA	N	NA	30	NA	30	NA	Heterozygous	c.1135_1136delCA (p.His379Phefs*3)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
488	NA	N	NA	45	NA	NA	NA	Heterozygous	c.4650C>G (p.Tyr1550*)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
489	NA	N	NA	36	NA	27	NA	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
490	NA	N	NA	65	NA	60	NA	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
491	NA	N	NA	65	NA	40	NA	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
492	NA	B	NA	NA	NA	NA	NA	Both		NA	NA	de Visser et al 2000
493	NA	N	NA	NA	NA	NA	NA	Not Reported		NA	NA	Le et al 2000
494	NA	N	NA	NA	NA	NA	NA	Both		NA	NA	Lunghi et al 1996
526	NA	N	NA	45	NA	NA	NA	Heterozygous	c.4650C>G (p.Tyr1550*)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
572	NA	N	NA	29	NA	NA	NA	Heterozygous	c.5176C>T (p.Arg1726Trp)	Asymptomatic	epistaxis	Calzavarini et al 2013
584	NA	F	NA	36	NA	43	NA	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Asymptomatic	DVT & PE	Castoldi et al 2000A

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.3995T>C

p.Leu1332Pro (Legacy AA No. 1304)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

3995T>C

No. of Patients Reported:

Phenotype:

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Baz 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
495	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	Baz et al 2021
496	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1098457

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.4000T>C

p.Phe1334Leu (Legacy AA No. 1306)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

4000T>C

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

NCBI Clinvar Variation ID: 875030
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
497	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 875030

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.4013A>C

p.Asn1338Thr (Legacy AA No. 1310)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

4013A>C

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

NCBI Clinvar Variation ID: 874096
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
498	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 874096

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.4082C>T

p.Pro1361Leu (Legacy AA No. 1333)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

4082C>T

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

244386

Allele Frequency *:

0.000008

References and Comments:

NCBI Clinvar Variation ID: 874095
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
499	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 874095

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.4096delC

p.Leu1366Phefs*3 (Legacy AA No. 1338)

Mutation Type:

Deletion

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Frameshift

Codon Change:

4096delC

No. of Patients Reported:

Phenotype:

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Mohan 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
500	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	Mohan et al 2020

Structural Interpretation:

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

c.4145C>A

p.Thr1382Lys (Legacy AA No. 1354)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

4145C>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

282520

Allele Frequency *:

0.000149

References and Comments:

NCBI Clinvar Variation ID: 1084141
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
501	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1084141

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.4172T>C

p.Met1391Thr (Legacy AA No. 1363)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

4172T>C

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

250804

Allele Frequency *:

0.000012

References and Comments:

NCBI Clinvar Variation ID: 875897
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
502	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 875897

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.4189C>T

p.Leu1397Phe (Legacy AA No. 1369)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

4189C>T

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

25684

Allele Number *:

282308

Allele Frequency *:

0.090979

References and Comments:

NCBI Clinvar Variation ID: 293600
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
503	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293600
504	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293600
505	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293600

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.4204delC

p.Thr1403Profs*7 (Legacy AA No. 1375)

Mutation Type:

Deletion

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Frameshift

Codon Change:

4204delC

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

van Wijk et al 2001A
bleeding treated with fresh frozen plasma; bleeds in mouth

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
506	NA	M	NA	<1	NA	<3	NA	Homozygous	Severe	bleeding treated with fresh frozen plasma; bleeds in mouth	van Wijk et al 2001A
507	NA	M	NA	57	NA	56	NA	Heterozygous	Asymptomatic	NA	van Wijk et al 2001A
508	NA	F	NA	52	NA	47	NA	Heterozygous	Asymptomatic	NA	van Wijk et al 2001A

Structural Interpretation:

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

c.4210C>T

p.Pro1404Ser (Legacy AA No. 1376)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

4210C>T

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

20912

Allele Number *:

282390

Allele Frequency *:

0.074054

References and Comments:

Schrijver et al 2002B
umblical bleeding at birth; gingival bleeding; CNS haemorrhage; splice error and chain termination upstream

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
239	NA	F	NA	0	NA	8	NA	Homozygous	c.1611G>T (p.Gln537His)	Severe	umblical bleeding at birth; gingival bleeding; repeated CNS haemorrhage	Schrijver et al 2002B
509	NA	F	NA	0	NA	8	NA	Homozygous	c.1611G>T (p.Gln537His)	Severe	umblical bleeding at birth; gingival bleeding; CNS haemorrhage; splice error and chain termination upstream	Schrijver et al 2002B

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.4297C>T

p.Leu1433Phe (Legacy AA No. 1405)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

4297C>T

No. of Patients Reported:

Phenotype:

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Baz 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
510	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	Baz et al 2021
511	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1098456

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.4309A>T

p.Thr1437Ser (Legacy AA No. 1409)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

4309A>T

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

31402

Allele Frequency *:

0.000032

References and Comments:

NCBI Clinvar Variation ID: 293598
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
512	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293598
513	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293598
514	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293598

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.4333A>G

p.Thr1445Ala (Legacy AA No. 1417)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

4333A>G

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

250546

Allele Frequency *:

0.000168

References and Comments:

NCBI Clinvar Variation ID: 293597
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
515	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293597
516	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293597

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.4346C>T

p.Pro1449Leu (Legacy AA No. 1421)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

4346C>T

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

281862

Allele Frequency *:

0.000082

References and Comments:

NCBI Clinvar Variation ID: 1138027
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
517	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1138027

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.4356C>A

p.Ser1452Arg (Legacy AA No. 1424)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

4356C>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

250498

Allele Frequency *:

0.000004

References and Comments:

NCBI Clinvar Variation ID: 293596
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
518	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293596

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.4357C>T

p.Gln1453* (Legacy AA No. 1425)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Nonsense

Codon Change:

4357C>T

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Delev et al 2009
bleeding after invasive procedures; 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
519	NA	F	NA	1	NA	NA	NA	Homozygous		Moderate	bleeding after invasive procedures; epistaxis	Delev et al 2009

Structural Interpretation:

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

c.4405T>C

p.Ser1469Pro (Legacy AA No. 1441)

Mutation Type:

Point

Domain:

d5B

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

4405T>C

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

282358

Allele Frequency *:

0.000294

References and Comments:

NCBI Clinvar Variation ID: 293595
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
520	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293595

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.4589A>C

p.Glu1530Ala (Legacy AA No. 1502)

Mutation Type:

Point

Domain:

d5a3

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

4589A>C

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

531

Allele Number *:

282418

Allele Frequency *:

0.00188

References and Comments:

NCBI Clinvar Variation ID: 787578
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
521	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 787578
522	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 787578
523	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 787578

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.4633C>A

p.Pro1545Thr (Legacy AA No. 1517)

Mutation Type:

Point

Domain:

d5a3

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

4633C>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

NCBI Clinvar Variation ID: 653984
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
524	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 653984

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.4634C>T

p.Pro1545Leu (Legacy AA No. 1517)

Mutation Type:

Point

Domain:

d5a3

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

4634C>T

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

251176

Allele Frequency *:

0.00002

References and Comments:

NCBI Clinvar Variation ID: 870844
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
525	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 870844

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.4650C>G

p.Tyr1550* (Legacy AA No. 1522)

Mutation Type:

Point

Domain:

Location:

Exon 13

Mutation Effect:

Nonsense

Codon Change:

4650C>G

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Paraboschi et al 2020
Mild 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
488	NA	N	NA	45	NA	NA	NA	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020
526	NA	N	NA	45	NA	NA	NA	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020

Structural Interpretation:

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

c.4699_4702dupATTG

p.Ala1568Aspfs*21 (Legacy AA No. 1540)

Mutation Type:

Duplication

Domain:

Location:

Exon 13

Mutation Effect:

Frameshift

Codon Change:

4699_4702dupATTG

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

Unknown

Allele Count *:

Allele Number *:

251084

Allele Frequency *:

0.000028

References and Comments:

Kling et al 2006
bleeding following abdominal surgery and tooth removal

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
174	NA	M	NA	<5	NA	5	NA	Heterozygous	c.1334T>C (p.Ile445Thr)	Asymptomatic	extreme bleeding after surgery and tooth extractions	Kling et al 2006
236	NA	M	NA	55	NA	NA	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	pseudohomozygous FV Leiden: thrombophilia	Zehnder et al 1999A see erratum & Mo
527	NA	M	NA	<5	NA	5	NA	Heterozygous	c.1334T>C (p.Ile445Thr)	Asymptomatic	bleeding following abdominal surgery and tooth removal	Kling et al 2006
528	NA	M	NA	55	NA	NA	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	pseudohomozygous FV Leiden; thrombotic episodes	Zehnder et al 1999A see erratum & Mo
529	NA	M	NA	44	NA	NA	NA	Heterozygous		Asymptomatic	NA	Zehnder et al 1999A see erratum & Mo

Structural Interpretation:

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

c.4744T>A

p.Tyr1582Asn (Legacy AA No. 1554)

Mutation Type:

Point

Domain:

dA3

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

4744T>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

NCBI Clinvar Variation ID: 627318
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
530	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 627318

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.4745A>G

p.Tyr1582Cys (Legacy AA No. 1554)

Mutation Type:

Point

Domain:

dA3

Location:

Exon 13

Mutation Effect:

Missense

Codon Change:

4745A>G

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Moret 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
531	NA	F	NA	48	NA	NA	NA	Heterozygous		Asymptomatic	NA	Moret et al 2019

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.4746_4748delTTA

p.Tyr1583del (Legacy AA No. 1555)

Mutation Type:

Deletion

Domain:

Location:

Exon 13

Mutation Effect:

Inframe

Codon Change:

4746_4748delTTA

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.5900T>A (p.Met1967Lys)	Mild	NA	Delev et al 2009
692	NA	M	NA	10	NA	NA	NA	Heterozygous	c.5900T>A (p.Met1967Lys)	Mild	NA	Delev et al 2009

Structural Interpretation:

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

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.4798delG

p.Glu1600Lysfs*19 (Legacy AA No. 1572)

Mutation Type:

Deletion

Domain:

d5A3

Location:

Exon 14

Mutation Effect:

Frameshift

Codon Change:

4798delG

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Fu Q et al 2003
opthalmological surgery requiring transfusions of 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
149	NA	F	NA	0	NA	1	NA	Heterozygous	c.1258G>T (p.Gly420Cys)	Severe	prolonged bleeding after opthalmological surgery requiring fresh frozen plasma treatment	Fu Q et al 2003
535	NA	F	NA	<1	NA	1	NA	Heterozygous	c.1258G>T (p.Gly420Cys)	Severe	opthalmological surgery requiring transfusions of fresh frozen plasma	Fu Q et al 2003
536	NA	F	NA	62	NA	45	NA	Heterozygous		Asymptomatic	NA	Fu Q et al 2003

Structural Interpretation:

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

c.4835A>T

p.Asp1612Val (Legacy AA No. 1584)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 14

Mutation Effect:

Missense

Codon Change:

4935A>T

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

282252

Allele Frequency *:

0.000103

References and Comments:

NCBI Clinvar Variation ID: 293594
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
537	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293594
538	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293594

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.4862G>A

p.Arg1621Gln (Legacy AA No. 1593)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 14

Mutation Effect:

Missense

Codon Change:

4862G>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

282324

Allele Frequency *:

0.000014

References and Comments:

NCBI Clinvar Variation ID: 627078
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
539	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 627078

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.4867T>G

p.Tyr1623Asp (Legacy AA No. 1595)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 14

Mutation Effect:

Missense

Codon Change:

4867T>G

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Duckers et al 2010
very mild epistaxis and gum bleeding; occasional menses

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
540	NA	F	NA	0	NA	4	NA	Heterozygous	c.763T>C (p.Trp255Arg)	Severe	very mild epistaxis and gum bleeding; occasional menses	Duckers et al 2010
90	NA	F	NA	0	NA	4	NA	Heterozygous	c.763T>C (p.Trp255Arg)	Severe	very mild epistaxis and gum bleeding	Duckers et al 2010

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.4900C>T

p.Arg1634* (Legacy AA No. 1606)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 14

Mutation Effect:

Nonsense

Codon Change:

4900C>T

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

251104

Allele Frequency *:

0.000008

References and Comments:

Delev et al 2009
bleeding after invasive procedures

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
541	NA	F	NA	37	NA	NA	NA	Heterozygous		Asymptomatic	bleeding after invasive procedures	Delev et al 2009
542	NA	F	NA	NA	NA	NA	NA	Heterozygous		NA	NA	Delev et al 2009
543	NA	M	NA	<1	NA	<1	NA	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Severe	muscle hematomas and hemarthroses spontaneously or after minor trauma	Montefusco et al 2003
592	NA	M	NA	0	NA	<1	NA	Heterozygous	c.5189A>G (p.Tyr1730Cys)	Severe	muscle hematomas and hemarthroses spontaneously or after minor trauma; gum bleeding	Montefusco et al 2003

Structural Interpretation:

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

c.4906G>A

p.Glu1636Lys (Legacy AA No. 1608)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 14

Mutation Effect:

Missense

Codon Change:

4906G>A

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

thrombosis

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Lunghi et al 2005B
epistaxis and haematoma frequently occur

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
224	NA	M	NA	55	NA	54	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	DVT	Lunghi et al 2005B
225	NA	F	NA	57	NA	NA	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	recurrent phlebitis	Lunghi et al 2005B
226	NA	M	NA	20	NA	NA	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	carotid thrombosis and recurrent DVT	Lunghi et al 2005B
544	NA	F	NA	39	NA	44	NA	Heterozygous		Asymptomatic	epistaxis and haematoma frequently occur	Lunghi et al 2005B
545	NA	M	NA	44	NA	83	NA	Heterozygous		Asymptomatic	NA	Lunghi et al 2005B
546	NA	M	NA	55	NA	54	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	DVT	Lunghi et al 2005B
547	NA	F	NA	57	NA	NA	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	phlebitis	Lunghi et al 2005B
548	NA	M	NA	20	NA	NA	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	recurrent DVT and occlusive carotid thrombosis	Lunghi et al 2005B
549	NA	F	NA	NA	NA	NA	NA	Heterozygous		NA	recurrent superficial thrombophlebitis	Lunghi et al 2005B
550	NA	F	NA	40	NA	36	NA	Heterozygous		Asymptomatic	NA	Lunghi et al 2005B
551	NA	F	NA	38	NA	50	NA	Heterozygous		Asymptomatic	spontaneous haematoma and metrorrhagia	Lunghi et al 2005B
552	NA	N	NA	50	NA	70	NA	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.4934delG

p.Gly1645Valfs*19 (Legacy AA No. 1617)

Mutation Type:

Deletion

Domain:

d5A3

Location:

Exon 14

Mutation Effect:

Frameshift

Codon Change:

4934delG

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Paraboschi et al 2020
spontaneous intracranial hemorrhage

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
202	NA	N	NA	<1	NA	2	NA	Heterozygous	c.1600delC (p.Arg534Lysfs*40)	Severe	spontaneous intracranial hemorrhage	Paraboschi et al 2020
553	NA	N	NA	<1	NA	2	NA	Heterozygous	c.1600delC (p.Arg534Lysfs*40)	Severe	spontaneous intracranial hemorrhage	Paraboschi et al 2020

Structural Interpretation:

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

c.4937C>G

p.Pro1646Arg (Legacy AA No. 1618)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 14

Mutation Effect:

Missense

Codon Change:

4937C>G

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Kanaji et al 2009
consanguineous parents; age 55

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
554	NA	F	NA	<3	NA	<2	NA	Homozygous		Asymptomatic	consanguineous parents; age 55	Kanaji et al 2009

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).

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Structural Interpretation:

UNIQUE (Without Patient Data) :

EXCEL/CSV

TABULAR

MULTIPLE (With Patient Data) :

EXCEL/CSV

TABULAR