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.4949C>T

p.Ala1650Val (Legacy AA No. 1622)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 14

Mutation Effect:

Missense

Codon Change:

4949C>T

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

282394

Allele Frequency *:

0.000074

References and Comments:

NCBI Clinvar Variation ID: 1013261
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
555	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1013261

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.4959T>A

p.Asp1653Glu (Legacy AA No. 1625)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 14

Mutation Effect:

Missense

Codon Change:

4959T>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

250996

Allele Frequency *:

0.000004

References and Comments:

NCBI Clinvar Variation ID: 293593
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
556	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293593

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.4976G>C

p.Arg1659Pro (Legacy AA No. 1631)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 15

Mutation Effect:

Missense

Codon Change:

4976G>C

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

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
557	NA	N	NA	41	NA	NA	NA	Heterozygous		Asymptomatic	NA	Cutler et al 2010

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5005T>C

p.Ser1669Pro (Legacy AA No. 1641)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 15

Mutation Effect:

Missense

Codon Change:

5005T>C

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

250562

Allele Frequency *:

0.000008

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
558	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.5009T>G

p.Leu1670Arg (Legacy AA No. 1642)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 15

Mutation Effect:

Missense

Codon Change:

5009T>G

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

250596

Allele Frequency *:

0.000004

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
136	NA	F	NA	33	NA	NA	NA	Heterozygous	c.1128G>T (p.Arg376Ser)	Asymptomatic	NA	Delev et al 2009
559	NA	F	NA	33	NA	NA	NA	Heterozygous	c.1128G>T (p.Arg376Ser)	Asymptomatic	NA	Delev et al 2009

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5022delA

p.Gly1674Glyfs (Legacy AA No. 1646)

Mutation Type:

Deletion

Domain:

d5A3

Location:

Exon 15

Mutation Effect:

Frameshift

Codon Change:

5022delA

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
560	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	Baz et al 2021

Structural Interpretation:

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

c.5037dupA

p.Ser1680Ilefs*8 (Legacy AA No. 1652)

Mutation Type:

Duplication

Domain:

d5A3

Location:

Exon 15

Mutation Effect:

Frameshift

Codon Change:

5037dupA

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

250750

Allele Frequency *:

0.000024

References and Comments:

Montefusco et al 2003
bleeding of soft tissues of the mouth; severe epistaxis, hematomas, melaena, menorrhagia 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
186	NA	F	NA	0	NA	3	NA	Heterozygous	c.1498T>G (p.Cys500Gly)	Severe	severe bleeding episodes after dental extraction and minor trauma	Montefusco et al 2003
561	NA	F	NA	<1	NA	3	NA	Heterozygous	c.1498T>G (p.Cys500Gly)	Severe	bleeding of soft tissues of the mouth; severe epistaxis, hematomas, melaena, menorrhagia and hemarthroses	Montefusco et al 2003

Structural Interpretation:

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

c.5052_5053insTTTC

p.Thr1685Phefs*4 (Legacy AA No. 1657)

Mutation Type:

Insertion

Domain:

d5A3

Location:

Exon 15

Mutation Effect:

Frameshift

Codon Change:

5052_5053insTTTC

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
178	NA	N	NA	0	NA	NA	NA	Heterozygous	c.1340C>G (p.Pro447Arg)	Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
562	NA	N	NA	<1	NA	NA	NA	Heterozygous	c.1340C>G (p.Pro447Arg)	Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020

Structural Interpretation:

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

c.5054C>G

p.Thr1685Ser (Legacy AA No. 1657)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 15

Mutation Effect:

Missense

Codon Change:

5054C>G

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

682

Allele Number *:

282160

Allele Frequency *:

0.002417

References and Comments:

NCBI Clinvar Variation ID: 293590
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
563	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293590
564	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293590
565	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293590
566	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293590
567	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293590

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5090A>G

p.Asp1697Gly (Legacy AA No. 1669)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 15

Mutation Effect:

Missense

Codon Change:

5090A>G

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Paraboschi et al 2019
tooth extractions done under prophylactic treatment, but bleeding still occurred; two pregnancies (no complications)

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.5789-12_5789-11delinsAA	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.5789-12_5789-11delinsAA	Moderate	NA	Paraboschi et al 2019

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5093delA

p.Asn1698Metfs*37 (Legacy AA No. 1670)

Mutation Type:

Deletion

Domain:

d5A3

Location:

Exon 15

Mutation Effect:

Frameshift

Codon Change:

5093delA

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
569	NA	N	NA	58	NA	45	NA	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020

Structural Interpretation:

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

c.5144G>A

p.Arg1715Gln (Legacy AA No. 1687)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 15

Mutation Effect:

Missense

Codon Change:

5144G>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

250774

Allele Frequency *:

0.000004

References and Comments:

NCBI Clinvar Variation ID: 874864
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
570	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 874864

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5176C>T

p.Arg1726Trp (Legacy AA No. 1698)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 15

Mutation Effect:

Missense

Codon Change:

5176C>T

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

250756

Allele Frequency *:

0.000024

References and Comments:

Calzavarini et al 2013
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
210	NA	N	NA	41	NA	46	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	epistaxis	Calzavarini et al 2013
477	NA	N	NA	29	NA	NA	NA	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	epistaxis	Calzavarini et al 2013
571	NA	N	NA	41	NA	46	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	epistaxis	Calzavarini et al 2013
572	NA	N	NA	29	NA	NA	NA	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	epistaxis	Calzavarini et al 2013
573	NA	F	NA	3	NA	NA	NA	Heterozygous	c.763T>C (p.Trp255Arg)	Moderate	bleeding after invasive procedures; menorrhagia	Delev et al 2009
574	NA	M	NA	6	NA	NA	NA	Heterozygous	c.6139C>T (p.Arg2047*)	Mild	NA	Delev et al 2009
716	NA	M	NA	6	NA	NA	NA	Heterozygous	c.6139C>T (p.Arg2047*)	Mild	NA	Delev et al 2009
89	NA	F	NA	3	NA	NA	NA	Heterozygous	c.763T>C (p.Trp255Arg)	Moderate	bleeding after invasive procedures; menorrhagia	Delev et al 2009

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5177G>A

p.Arg1726Gln (Legacy AA No. 1698)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 15

Mutation Effect:

Missense

Codon Change:

5177G>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

282142

Allele Frequency *:

0.000053

References and Comments:

NCBI Clinvar Variation ID: 255209
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
575	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 255209
576	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 255209

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5189A>G

p.Tyr1730Cys (Legacy AA No. 1702)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 15

Mutation Effect:

Missense

Codon Change:

5189A>G

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

250750

Allele Frequency *:

0.000016

References and Comments:

Castoldi et al 2001
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
121	NA	F	NA	<1	NA	<3	NA	Heterozygous	c.1042_1049del (p.Lys348Glyfs*32)	Severe	soft tissue bleeds of the mouth, epistaxis, fresh frozen plasma used to treat	van Wijk et al 2001A
216	NA	M	NA	50	NA	50	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	pseudohomozygous FV Leiden; right leg DVT	Castoldi et al 2000A
217	NA	M	NA	50	NA	50	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	recurrent thromboses; pseudohomozygous APC resistance	Castoldi et al 2001
234	NA	N	NA	45	NA	44	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	VTE	Simioni et al 2005
264	NA	F	NA	<3	NA	<1	NA	Heterozygous	c.1852dupC (p.Gln618Profs*3)	Asymptomatic	recurrent epistaxis	Yamakage et al 2006
482	NA	F	NA	36	NA	43	NA	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	DVT and PE	Castoldi et al 2000A
543	NA	M	NA	<1	NA	<1	NA	Heterozygous	c.4900C>T (p.Arg1634*)	Severe	muscle hematomas and hemarthroses spontaneously or after minor trauma	Montefusco et al 2003
577	NA	M	NA	1	NA	NA	NA	Homozygous		Moderate	NA	Castoldi et al 2001
578	NA	F	NA	1	NA	NA	NA	Homozygous		Moderate	recurrent epistaxis; serious hemorrhage post dental extraction	Castoldi et al 2001
579	NA	F	NA	0	NA	1	NA	Homozygous		Severe	NA	Montefusco et al 2003
580	NA	N	NA	0	NA	<1	NA	Homozygous		Severe	hernia with hemmorhages	Paraboschi et al 2020
581	NA	N	NA	0	NA	2	NA	Homozygous		Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
582	NA	M	NA	<2	NA	NA	NA	Homozygous		Asymptomatic	bleeding after trauma or surgery	Talbot et al 2010
583	NA	M	NA	50	NA	50	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	pseudohomozygous FV Leiden; right leg DVT	Castoldi et al 2000A
584	NA	F	NA	36	NA	43	NA	Heterozygous	c.3980A>G (p.His1327Arg)	Asymptomatic	DVT & PE	Castoldi et al 2000A
585	NA	M	NA	60	NA	60	NA	Heterozygous		Asymptomatic	NA	Castoldi et al 2000A
586	NA	F	NA	55	NA	50	NA	Heterozygous		Asymptomatic	NA	Castoldi et al 2000A
587	NA	M	NA	64	NA	56	NA	Heterozygous		Asymptomatic	NA	Castoldi et al 2000A
588	NA	F	NA	40	NA	45	NA	Heterozygous		Asymptomatic	NA	Castoldi et al 2000A
589	NA	F	NA	0	NA	NA	NA	Heterozygous		Severe	gum bleeding from age 3; post-traumatic hemarthrosis age 8, recurrent menorrhagia age 15	Castoldi et al 2001
590	NA	M	NA	30	NA	NA	NA	Heterozygous		Asymptomatic	bleeding after tonsillectinomy	Castoldi et al 2001
591	NA	M	NA	50	NA	50	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	recurrent thromboses; pseudohomozygous APC resistance	Castoldi et al 2001
592	NA	M	NA	0	NA	<1	NA	Heterozygous	c.4900C>T (p.Arg1634*)	Severe	muscle hematomas and hemarthroses spontaneously or after minor trauma; gum bleeding	Montefusco et al 2003
593	NA	F	NA	58	NA	63	NA	Heterozygous		Asymptomatic	NA	Montefusco et al 2003
594	NA	N	NA	45	NA	44	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	VTE	Simioni et al 2005
595	NA	M	NA	50	NA	50	NA	Heterozygous		Asymptomatic	NA	Talbot et al 2010
596	NA	F	NA	0	NA	<3	NA	Heterozygous	c.1042_1049del (p.Lys348Glyfs*32)	Severe	soft tissue bleeds of the mouth, epistaxis	van Wijk et al 2001A
597	NA	F	NA	<3	NA	<1	NA	Heterozygous	c.1852dupC (p.Gln618Profs*3)	Asymptomatic	recurrent epistaxis, joint haematoma	Yamakage et al 2006

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5215G>T

p.Asp1739Tyr (Legacy AA No. 1711)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 16

Mutation Effect:

Missense

Codon Change:

5215G>T

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
598	NA	N	NA	0	NA	<1	NA	Homozygous		Severe	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5219T>G

p.Ile1740Ser (Legacy AA No. 1712)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 15

Mutation Effect:

Missense

Codon Change:

5219T>G

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

NCBI Clinvar Variation ID: 1315402
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
599	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1315402

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5227G>A

p.Gly1743Ser (Legacy AA No. 1715)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 16

Mutation Effect:

Missense

Codon Change:

5227G>A

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Liu et al 2020
recurrent gingival bleeding

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
600	NA	M	NA	3	NA	7	NA	Homozygous	Moderate	recurrent gingival bleeding	Liu et al 2020
601	NA	M	NA	60	NA	62	NA	Heterozygous	Asymptomatic	NA	Liu et al 2020
602	NA	F	NA	47	NA	51	NA	Heterozygous	Asymptomatic	NA	Liu et al 2020
603	NA	M	NA	45	NA	52	NA	Heterozygous	Asymptomatic	NA	Liu et al 2020
604	NA	F	NA	52	NA	49	NA	Heterozygous	Asymptomatic	NA	Liu et al 2020

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5236G>A

p.Gly1746Ser (Legacy AA No. 1718)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 16

Mutation Effect:

Missense

Codon Change:

5236G>A

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

thrombosis

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Pruller et al 2013
normal APCR ratio despite heterozygous FV Leiden

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
227	NA	F	NA	65	NA	43	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	normal APCR ratio despite heterozygous FV Leiden	Pruller et al 2013
228	NA	M	NA	72	NA	37	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	normal APCR ratio even with heterozygous FV Leiden	Pruller et al 2013
229	NA	F	NA	54	NA	30	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	normal APCR ratio even though heterozygous FV Leiden	Pruller et al 2013
230	NA	F	NA	76	NA	52	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	normal APCR ratio even though heterozygous FV Leiden	Pruller et al 2013
605	NA	F	NA	65	NA	43	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	normal APCR ratio despite heterozygous FV Leiden	Pruller et al 2013
606	NA	M	NA	72	NA	37	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	normal APCR ratio despite heterozygous FV Leiden	Pruller et al 2013
607	NA	F	NA	54	NA	30	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	normal APCR ratio despite heterozygous FV Leiden	Pruller et al 2013
608	NA	F	NA	76	NA	52	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	normal APCR ratio despite heterozygous FV Leiden	Pruller et al 2013

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5245C>G

p.Leu1749Val (Legacy AA No. 1721)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 16

Mutation Effect:

Missense

Codon Change:

5245C>G

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

682

Allele Number *:

281968

Allele Frequency *:

0.002419

References and Comments:

NCBI Clinvar Variation ID: 713561
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
609	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 713561
610	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 713561
611	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 713561
612	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 713561

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5265A>G

p.Ile1755Met (Legacy AA No. 1727)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 16

Mutation Effect:

Missense

Codon Change:

5265A>G

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

275

Allele Number *:

282198

Allele Frequency *:

0.000974

References and Comments:

NCBI Clinvar Variation ID: 579171
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
613	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 579171
614	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 579171
615	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 579171
616	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 579171
617	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 579171

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5290A>G

p.Met1764Val (Legacy AA No. 1736)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 16

Mutation Effect:

Missense

Codon Change:

5290A>G

No. of Patients Reported:

Phenotype:

Association:

thrombosis

Allele Count *:

95163

Allele Number *:

282266

Allele Frequency *:

0.337139

References and Comments:

Chegeni et al 2007
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
618	NA	N	NA	NA	NA	NA	NA	Not reported		NA	NA	Chegeni et al 2007

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5308G>A

p.Val1770Ile (Legacy AA No. 1742)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 16

Mutation Effect:

Missense

Codon Change:

5308G>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

251012

Allele Frequency *:

0.000004

References and Comments:

NCBI Clinvar Variation ID: 293587
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
619	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293587
620	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293587

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5318T>A

p.Phe1773Tyr (Legacy AA No. 1745)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 16

Mutation Effect:

Missense

Codon Change:

5318T>A

No. of Patients Reported:

Phenotype:

Asymptomatic

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
621	NA	F	NA	30	NA	NA	NA	Heterozygous		Asymptomatic	NA	Delev et al 2009

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5332G>C

p.Glu1778Gln (Legacy AA No. 1750)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 16

Mutation Effect:

Missense

Codon Change:

5332G>C

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

31402

Allele Frequency *:

0.000032

References and Comments:

NCBI Clinvar Variation ID: 293586
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
622	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293586
623	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293586

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5365C>T

p.Arg1789* (Legacy AA No. 1761)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 16

Mutation Effect:

Nonsense

Codon Change:

5365C>T

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

251058

Allele Frequency *:

0.00002

References and Comments:

NCBI Clinvar Variation ID: 627332
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
624	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 627332

Structural Interpretation:

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

c.5392G>A

p.Glu1798Lys (Legacy AA No. 1770)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 16

Mutation Effect:

Missense

Codon Change:

5392G>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

NCBI Clinvar Variation ID: 56160
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
625	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 56160

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5403_5404insG

p.Ser1802Valfs*3 (Legacy AA No. 1774)

Mutation Type:

Insertion

Domain:

d5A3

Location:

Exon 16

Mutation Effect:

Frameshift

Codon Change:

5403_5404insG

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Ajzner et al 2002
subdural hematoma at birth; 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
368	NA	M	NA	<1	NA	1	NA	Heterozygous	c.2862delT (p.Ser955Alafs*4)	Severe	subdural hematoma at birth; easy bruising and severe hematoma after intramuscular injections	Ajzner et al 2002
626	NA	M	NA	<1	NA	1	NA	Heterozygous	c.2862delT (p.Ser955Alafs*4)	Severe	subdural hematoma at birth; easy bruising	Ajzner et al 2002
627	NA	F	NA	47	NA	33	NA	Heterozygous		Asymptomatic	NA	Ajzner et al 2002

Structural Interpretation:

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

c.5408A>G

p.His1803Arg (Legacy AA No. 1775)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 16

Mutation Effect:

Missense

Codon Change:

5408A>G

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

250934

Allele Frequency *:

0.000028

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
628	NA	N	NA	3	NA	5	NA	Heterozygous	c.5546T>C (p.Leu1849Ser)	Moderate	NA	Cutler et al 2010
629	NA	N	NA	0	NA	NA	NA	Heterozygous	c.6257C>A (p.Ser2086*)	Severe	NA	Cutler et al 2010
654	NA	N	NA	3	NA	5	NA	Heterozygous	c.5546T>C (p.Leu1849Ser)	Moderate	NA	Cutler et al 2010
736	NA	N	NA	<1	NA	NA	NA	Heterozygous	c.6257C>A (p.Ser2086*)	Severe	NA	Cutler et al 2010

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5419G>A

p.Ala1807Thr (Legacy AA No. 1779)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 16

Mutation Effect:

Missense

Codon Change:

5419G>A

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

282210

Allele Frequency *:

0.000014

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
221	NA	M	NA	72	NA	73	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	Previous thrombotic episodes	Guasch et al 1997
630	NA	M	NA	30	NA	NA	NA	Heterozygous		Asymptomatic	NA	Delev et al 2009
631	NA	M	NA	72	NA	73	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	history of thrombosis	Guasch et al 1997

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5420-1G>T

NA (Legacy AA No. NA)

Mutation Type:

Point

Domain:

Intron

Location:

Intron 16

Mutation Effect:

Intronic

Codon Change:

5420-1G>T

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Zheng et al 2006; see also PMID 20664902
epistaxis and mouth soft tissue 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
255	NA	M	NA	1	NA	2	NA	Heterozygous	c.1673A>C (p.Tyr558Ser)	Moderate	epistaxis and mouth soft tissue bleeds	Zheng et al 2006; see also PMID 2066
632	NA	M	NA	1	NA	2	NA	Heterozygous	c.1673A>C (p.Tyr558Ser)	Moderate	epistaxis and mouth soft tissue bleeds	Zheng et al 2006; see also PMID 2066
633	NA	F	NA	NA	NA	NA	NA	Heterozygous		NA	NA	Zheng et al 2006; see also PMID 2066

Structural Interpretation:

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

c.5431A>T

p.Met1811Leu (Legacy AA No. 1783)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 17

Mutation Effect:

Missense

Codon Change:

5431A>T

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

208

Allele Number *:

282210

Allele Frequency *:

0.000737

References and Comments:

NCBI Clinvar Variation ID: 873864
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
634	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 873864

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5446C>T

p.Pro1816Ser (Legacy AA No. 1788)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 17

Mutation Effect:

Missense

Codon Change:

5446C>T

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

290

Allele Number *:

282290

Allele Frequency *:

0.001027

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
635	NA	F	NA	47	NA	NA	NA	Heterozygous		Asymptomatic	Na	Delev et al 2009

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5460G>A

p.Met1820Ile (Legacy AA No. 1792)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 17

Mutation Effect:

Missense

Codon Change:

5460G>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

733

Allele Number *:

282336

Allele Frequency *:

0.002596

References and Comments:

NCBI Clinvar Variation ID: 293583
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
636	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293583
637	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293583
638	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293583

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5474G>A

p.Trp1825* (Legacy AA No. 1797)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 17

Mutation Effect:

Nonsense

Codon Change:

5474G>A

No. of Patients Reported:

Phenotype:

Association:

FV Deficiency

Allele Count *:

Allele Number *:

250976

Allele Frequency *:

0.000004

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
639	NA	N	NA	NA	NA	70	NA	Heterozygous		NA	Mild FV deficiency (>13% FV:C)	Paraboschi et al 2020

Structural Interpretation:

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

c.5492T>C

p.Leu1831Pro (Legacy AA No. 1803)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 17

Mutation Effect:

Missense

Codon Change:

5492T>C

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Wang et al 2018
haematuria requiring frozen-fresh plasma transfusion; lower VWF activity

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
640	NA	M	NA	41	NA	NA	NA	Heterozygous	Asymptomatic	haematuria requiring frozen-fresh plasma transfusion; lower VWF activity	Wang et al 2018
641	NA	F	NA	47	NA	NA	NA	Heterozygous	Asymptomatic	menorrhagia	Wang et al 2018
642	NA	F	NA	53	NA	NA	NA	Heterozygous	Asymptomatic	menorrhagia	Wang et al 2018
643	NA	M	NA	42	NA	NA	NA	Heterozygous	Asymptomatic	gingival bleeding	Wang et al 2018

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5520_5526dup

p.His1843Argfs*15 (Legacy AA No. 1815)

Mutation Type:

Duplication

Domain:

d5A3

Location:

Exon 17

Mutation Effect:

Frameshift

Codon Change:

5520_5526dup

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Cai et al 2007
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
122	NA	F	NA	4	NA	4	NA	Heterozygous	c.1059C>G (p.Phe353Leu)	Moderate	NA	Cai et al 2007
644	NA	F	NA	4	NA	4	NA	Heterozygous	c.1059C>G (p.Phe353Leu)	Moderate	NA	Cai et al 2007
645	NA	F	NA	43	NA	41	NA	Heterozygous		Asymptomatic	NA	Cai et al 2007
646	NA	F	NA	36	NA	26	NA	Heterozygous		Asymptomatic	NA	Cai et al 2007

Structural Interpretation:

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

c.5521G>A

p.Val1841Met (Legacy AA No. 1813)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 17

Mutation Effect:

Missense

Codon Change:

5521G>A

No. of Patients Reported:

Phenotype:

Severe

Association:

FV Deficiency

Allele Count *:

Allele Number *:

250952

Allele Frequency *:

0.000008

References and Comments:

Shinozawa et al 2007
haemarthroses; dorsal muscle 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
298	NA	M	NA	<1	NA	5	NA	Heterozygous	c.2218C>T (p.Arg740*)	Severe	epistaxis and easy bruising requiring plasma infusion after dental extraction	Montefusco et al 2003
647	NA	M	NA	0	NA	4	NA	Homozygous		Severe	haemarthroses; dorsal muscle bleeding	Shinozawa et al 2007
648	NA	F	NA	35	NA	NA	NA	Heterozygous		Asymptomatic	NA	Delev et al 2009
649	NA	M	NA	0	NA	5	NA	Heterozygous	c.2218C>T (p.Arg740*)	Severe	easy bruising and epistaxis	Montefusco et al 2003
650	NA	F	NA	0	NA	9	NA	Heterozygous	c.6157_6161delACCCT (p.Thr2053Serfs*8)	Severe	epistaxis, easy bruising, and hemarthroses	Shinozawa et al 2007
651	NA	F	NA	69	NA	62	NA	Heterozygous		Asymptomatic	NA	Shinozawa et al 2007
717	NA	F	NA	<1	NA	9	NA	Heterozygous	c.6157_6161delACCCT (p.Thr2053Serfs*8)	Severe	epistaxis, easy bruising, and hemarthroses	Shinozawa et al 2007

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5534A>G

p.His1845Arg (Legacy AA No. 1817)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 17

Mutation Effect:

Missense

Codon Change:

5534A>G

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

282384

Allele Frequency *:

0.000078

References and Comments:

NCBI Clinvar Variation ID: 293581
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
652	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293581
653	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 293581

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5546T>C

p.Leu1849Ser (Legacy AA No. 1821)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 17

Mutation Effect:

Missense

Codon Change:

5546T>C

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

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
628	NA	N	NA	3	NA	5	NA	Heterozygous	c.5408A>G (p.His1803Arg)	Moderate	NA	Cutler et al 2010
654	NA	N	NA	3	NA	5	NA	Heterozygous	c.5408A>G (p.His1803Arg)	Moderate	NA	Cutler et al 2010
655	NA	N	NA	35	NA	NA	NA	Heterozygous		Asymptomatic	Na	Cutler et al 2010

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5558G>T

p.Gly1853Val (Legacy AA No. 1825)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 17

Mutation Effect:

Missense

Codon Change:

5558G>T

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

361

Allele Number *:

282286

Allele Frequency *:

0.001279

References and Comments:

NCBI Clinvar Variation ID: 293580
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
656	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293580
657	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293580
658	NA	N	NA	NA	NA	NA	NA	NA	NA	NA	NCBI Clinvar Variation ID: 293580

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5592delT

p.Leu1864Cysfs*10 (Legacy AA No. 1836)

Mutation Type:

Deletion

Domain:

d5A3

Location:

Exon 17

Mutation Effect:

Frameshift

Codon Change:

5592delT

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

thrombosis

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Dargaud et al 2003
in cis rescue from APC resistance; superficial 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
219	NA	F	NA	50	NA	48	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	NA	Dargaud et al 2003
659	NA	F	NA	50	NA	48	NA	Heterozygous	c.1601G>A (p.Arg534Gln)	Asymptomatic	in cis rescue from APC resistance; superficial thrombosis	Dargaud et al 2003

Structural Interpretation:

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

c.5594T>G

p.Leu1865Arg (Legacy AA No. 1976)

Mutation Type:

Point

Domain:

d5C1

Location:

Exon 17

Mutation Effect:

Missense

Codon Change:

5594T>G

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
660	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	Baz et al 2021
661	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 1098454

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5621T>C

p.Met1874Thr (Legacy AA No. 1846)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 17

Mutation Effect:

Missense

Codon Change:

5621T>C

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

282400

Allele Frequency *:

0.000085

References and Comments:

NCBI Clinvar Variation ID: 627095
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
662	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 627095

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5630C>A

p.Ser1877* (Legacy AA No. 1849)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 18

Mutation Effect:

Nonsense

Codon Change:

5630C>A

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
173	NA	N	NA	2	NA	<1	NA	Heterozygous	c.1321C>T (p.Arg441Cys)	Moderate	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020
663	NA	N	NA	2	NA	<1	NA	Heterozygous	c.1321C>T (p.Arg441Cys)	Moderate	Severe FV deficiency (<13% FV:C)	Paraboschi et al 2020

Structural Interpretation:

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

c.5639G>T

p.Gly1880Val (Legacy AA No. 1852)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 18

Mutation Effect:

Missense

Codon Change:

5639G>T

No. of Patients Reported:

Phenotype:

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Fu-WJ et al 2003A
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
664	NA	F	NA	NA	NA	NA	NA	Homozygous		NA	NA	Fu-WJ et al 2003A

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5645G>A

p.Trp1882* (Legacy AA No. 1854)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 18

Mutation Effect:

Nonsense

Codon Change:

5645G>A

No. of Patients Reported:

Phenotype:

Asymptomatic

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

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
665	NA	M	NA	31	NA	NA	NA	Heterozygous		Asymptomatic	bleeding after invasive procedures	Delev et al 2009

Structural Interpretation:

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

c.5646G>A

p.Trp1882* (Legacy AA No. 1854)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 18

Mutation Effect:

Nonsense

Codon Change:

5646G>A

No. of Patients Reported:

Phenotype:

Moderate

Association:

FV Deficiency

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

Montefusco et al 2003
recurrent epistaxis; bleedings from the oral cavity, postinjection hematomas

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
666	NA	M	NA	2	NA	1	NA	Homozygous		Moderate	recurrent epistaxis; bleedings from the oral cavity, postinjection hematomas	Montefusco et al 2003

Structural Interpretation:

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

c.5668G>A

p.Glu1890Lys (Legacy AA No. 1862)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 18

Mutation Effect:

Missense

Codon Change:

5668G>A

No. of Patients Reported:

Phenotype:

Association:

Unknown

Allele Count *:

Allele Number *:

Allele Frequency *:

References and Comments:

NCBI Clinvar Variation ID: 56161
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
667	NA	N	NA	NA	NA	NA	NA	NA		NA	NA	NCBI Clinvar Variation ID: 56161

Structural Interpretation:

Please click HERE for in-depth variant analysis.

c.5683G>C

p.Gly1895Arg (Legacy AA No. 1867)

Mutation Type:

Point

Domain:

d5A3

Location:

Exon 18

Mutation Effect:

Missense

Codon Change:

5683G>C

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
668	NA	N	NA	49	NA	NA	NA	Heterozygous		Asymptomatic	Mild FV deficiency (>13% FV:C)	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:

Patient Information: Show

Structural Interpretation:

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Structural Interpretation:

UNIQUE (Without Patient Data) :

EXCEL/CSV

TABULAR

MULTIPLE (With Patient Data) :

EXCEL/CSV

TABULAR