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



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

  delexon1-25
NA (Legacy AA No. NA)
Mutation Type: 
Deletion
Domain: 
Multiple Domains
Location: 
Exon 1-25
Mutation Effect: 
Large Deletion
Codon Change: 
delexon1-25
No. of Patients Reported: 
2
Phenotype: 
Mild
Association: 
FV Deficiency
Allele Count *: 
NA
Allele Number *: 
NA
Allele Frequency *: 
NA

References and Comments:

Caudill et al 2007
deletion of entire F5 gene

Patient Information: Show


Structural Interpretation:

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



  delexon1-7
NA (Legacy AA No. NA)
Mutation Type: 
Deletion
Domain: 
Multiple Domains
Location: 
Exon 1-7
Mutation Effect: 
Large Deletion
Codon Change: 
delexon1-7
No. of Patients Reported: 
4
Phenotype: 
Moderate
Association: 
FV Deficiency
Allele Count *: 
NA
Allele Number *: 
NA
Allele Frequency *: 
NA

References and Comments:

Guella et al 2011
heel pricks and prolonged bleeding, circumcision caused bleeding, bleeding that required a transfusion with blood and fresh-frozen plasma (day 2)

Patient Information: Show


Structural Interpretation:

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



  c.43G>A
p.Gly15Ser (Legacy AA No. -13)
Mutation Type: 
Point
Domain: 
Signal Peptide
Location: 
Exon 1
Mutation Effect: 
Missense
Codon Change: 
43G>A
No. of Patients Reported: 
3
Phenotype: 
NA
Association: 
Unknown
Allele Count *: 
1735
Allele Number *: 
282320
Allele Frequency *: 
0.006146

References and Comments:

NCBI Clinvar Variation ID: 293644
NA

Patient Information: Show


Structural Interpretation:

Please click HERE for in-depth variant analysis.



  c.44G>A
p.Gly15Asp (Legacy AA No. -13)
Mutation Type: 
Point
Domain: 
Signal Peptide
Location: 
Exon 1
Mutation Effect: 
Missense
Codon Change: 
44G>A
No. of Patients Reported: 
1
Phenotype: 
Asymptomatic
Association: 
FV Deficiency
Allele Count *: 
NA
Allele Number *: 
NA
Allele Frequency *: 
NA

References and Comments:

Paraboschi et al 2020
>13% FV:C; major bleeding events not observed

Patient Information: Show


Structural Interpretation:

Please click HERE for in-depth variant analysis.



  c.106G>A
p.Val36Met (Legacy AA No. 8)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 1
Mutation Effect: 
Missense
Codon Change: 
106G>A
No. of Patients Reported: 
1
Phenotype: 
NA
Association: 
Unknown
Allele Count *: 
129
Allele Number *: 
281924
Allele Frequency *: 
0.000458

References and Comments:

NCBI Clinvar Variation ID: 710594
NA

Patient Information: Show


Structural Interpretation:

Please click HERE for in-depth variant analysis.



  c.158+1G>A
NA (Legacy AA No. NA)
Mutation Type: 
Point
Domain: 
Intron
Location: 
Intron 1
Mutation Effect: 
Intronic
Codon Change: 
158+1G>A
No. of Patients Reported: 
10
Phenotype: 
Severe
Association: 
FV Deficiency
Allele Count *: 
NA
Allele Number *: 
NA
Allele Frequency *: 
NA

References and Comments:

Bafunno et al 2012
recurrent epistaxis

Patient Information: Show


Structural Interpretation:

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



  c.250+1G>A
NA (Legacy AA No. NA)
Mutation Type: 
Point
Domain: 
Intron
Location: 
Intron 2
Mutation Effect: 
Intronic
Codon Change: 
250+1G>A
No. of Patients Reported: 
1
Phenotype: 
Asymptomatic
Association: 
FV Deficiency
Allele Count *: 
NA
Allele Number *: 
NA
Allele Frequency *: 
NA

References and Comments:

Cutler et al 2010
NA

Patient Information: Show


Structural Interpretation:

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



  c.269T>C
p.Leu90Ser (Legacy AA No. 62)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 3
Mutation Effect: 
Missense
Codon Change: 
269T>C
No. of Patients Reported: 
1
Phenotype: 
Asymptomatic
Association: 
FV Deficiency
Allele Count *: 
NA
Allele Number *: 
NA
Allele Frequency *: 
NA

References and Comments:

Cutler et al 2010
postoperative and postpartum bleeding

Patient Information: Show


Structural Interpretation:

Please click HERE for in-depth variant analysis.



  c.271T>A
p.Tyr91Asn (Legacy AA No. 63)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 3
Mutation Effect: 
Missense
Codon Change: 
271T>A
No. of Patients Reported: 
1
Phenotype: 
Asymptomatic
Association: 
FV Deficiency
Allele Count *: 
NA
Allele Number *: 
NA
Allele Frequency *: 
NA

References and Comments:

Delev et al 2009
bleeding after invasive procedure, epistaxis; haematoma

Patient Information: Show


Structural Interpretation:

Please click HERE for in-depth variant analysis.



  c.281T>C
p.Val94Ala (Legacy AA No. 66)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 3
Mutation Effect: 
Missense
Codon Change: 
281T>C
No. of Patients Reported: 
1
Phenotype: 
NA
Association: 
Unknown
Allele Count *: 
2
Allele Number *: 
250870
Allele Frequency *: 
0.000008

References and Comments:

NCBI Clinvar Variation ID: 874767
NA

Patient Information: Show


Structural Interpretation:

Please click HERE for in-depth variant analysis.



  c.283G>A
p.Gly95Arg (Legacy AA No. 67)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 3
Mutation Effect: 
Missense
Codon Change: 
283G>A
No. of Patients Reported: 
1
Phenotype: 
Asymptomatic
Association: 
FV Deficiency
Allele Count *: 
9
Allele Number *: 
282258
Allele Frequency *: 
0.000032

References and Comments:

Delev et al 2009
haematoma

Patient Information: Show


Structural Interpretation:

Please click HERE for in-depth variant analysis.



  c.286G>C
p.Asp96His (Legacy AA No. 68)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 3
Mutation Effect: 
Missense
Codon Change: 
286G>C
No. of Patients Reported: 
16
Phenotype: 
Moderate
Association: 
FV Deficiency
Allele Count *: 
22
Allele Number *: 
282272
Allele Frequency *: 
0.000078

References and Comments:

Cao et al 2011
bleeding during teeth regeneration prolonged

Patient Information: Show


Structural Interpretation:

Please click HERE for in-depth variant analysis.



  c.319G>C
p.Asp107His (Legacy AA No. 79)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 3
Mutation Effect: 
Missense
Codon Change: 
319G>C
No. of Patients Reported: 
3
Phenotype: 
NA
Association: 
thrombosis
Allele Count *: 
19726
Allele Number *: 
282020
Allele Frequency *: 
0.069945

References and Comments:

Bossone et al 2003
NA

Patient Information: Show


Structural Interpretation:

Please click HERE for in-depth variant analysis.



  c.320A>G
p.Asp107Gly (Legacy AA No. 79)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 3
Mutation Effect: 
Missense
Codon Change: 
320A>G
No. of Patients Reported: 
1
Phenotype: 
Severe
Association: 
FV Deficiency
Allele Count *: 
NA
Allele Number *: 
NA
Allele Frequency *: 
NA

References and Comments:

Paraboschi et al 2020
Severe FV deficiency (<13% FV:C) but no major bleeding episodes reported

Patient Information: Show


Structural Interpretation:

Please click HERE for in-depth variant analysis.



  c.333C>A
p.Ser111Arg (Legacy AA No. 83)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 3
Mutation Effect: 
Missense
Codon Change: 
333C>A
No. of Patients Reported: 
1
Phenotype: 
NA
Association: 
Unknown
Allele Count *: 
NA
Allele Number *: 
NA
Allele Frequency *: 
NA

References and Comments:

NCBI Clinvar Variation ID: 626955
NA

Patient Information: Show


Structural Interpretation:

Please click HERE for in-depth variant analysis.



  c.355T>A
p.Tyr119Asn (Legacy AA No. 91)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 3
Mutation Effect: 
Missense
Codon Change: 
355T>A
No. of Patients Reported: 
1
Phenotype: 
Asymptomatic
Association: 
FV Deficiency
Allele Count *: 
1
Allele Number *: 
250208
Allele Frequency *: 
0.000004

References and Comments:

Delev et al 2008
muscle haematoma and one bleeding episode after delivery

Patient Information: Show


Structural Interpretation:

Please click HERE for in-depth variant analysis.



  c.358A>G
p.Ser120Gly (Legacy AA No. 92)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 3
Mutation Effect: 
Missense
Codon Change: 
358A>G
No. of Patients Reported: 
1
Phenotype: 
NA
Association: 
Unknown
Allele Count *: 
NA
Allele Number *: 
NA
Allele Frequency *: 
NA

References and Comments:

NCBI Clinvar Variation ID: 626961
NA

Patient Information: Show


Structural Interpretation:

Please click HERE for in-depth variant analysis.



  c.373+2T>C
NA (Legacy AA No. NA)
Mutation Type: 
Point
Domain: 
Intron
Location: 
Intron 3
Mutation Effect: 
Intronic
Codon Change: 
373+2T>C
No. of Patients Reported: 
4
Phenotype: 
Severe
Association: 
FV Deficiency
Allele Count *: 
NA
Allele Number *: 
NA
Allele Frequency *: 
NA

References and Comments:

Nuzzo et al 2017
intracranial haemorrhages even with FFP treatment and prophylaxis

Patient Information: Show


Structural Interpretation:

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



  c.374G>A
p.Gly125Asp (Legacy AA No. 97)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 4
Mutation Effect: 
Missense
Codon Change: 
374G>A
No. of Patients Reported: 
1
Phenotype: 
NA
Association: 
Unknown
Allele Count *: 
6
Allele Number *: 
251056
Allele Frequency *: 
0.000024

References and Comments:

NCBI Clinvar Variation ID: 873809
NA

Patient Information: Show


Structural Interpretation:

Please click HERE for in-depth variant analysis.



  c.405NA
p.Ala135Ala (Legacy AA No. 107)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 4
Mutation Effect: 
Silent
Codon Change: 
405NA
No. of Patients Reported: 
4
Phenotype: 
NA
Association: 
FV Deficiency
Allele Count *: 
74500
Allele Number *: 
282538
Allele Frequency *: 
0.263681

References and Comments:

Janicki et al 2013
NA

Patient Information: Show


Structural Interpretation:

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



  c.430C>A
p.Pro144Thr (Legacy AA No. 116)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 4
Mutation Effect: 
Missense
Codon Change: 
430C>A
No. of Patients Reported: 
1
Phenotype: 
NA
Association: 
FV Deficiency
Allele Count *: 
NA
Allele Number *: 
NA
Allele Frequency *: 
NA

References and Comments:

Baz et al 2021
NA

Patient Information: Show


Structural Interpretation:

Please click HERE for in-depth variant analysis.



  c.434delG
p.Gly145Alafs*34 (Legacy AA No. 117)
Mutation Type: 
Deletion
Domain: 
d5A1
Location: 
Exon 4
Mutation Effect: 
Frameshift
Codon Change: 
434delG
No. of Patients Reported: 
2
Phenotype: 
Asymptomatic
Association: 
FV Deficiency
Allele Count *: 
NA
Allele Number *: 
NA
Allele Frequency *: 
NA

References and Comments:

Traynis et al 2006
FVII deficiency (38% FVII:C) with paternal inheritance; microscopic haematuria

Patient Information: Show


Structural Interpretation:

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



  c.434G>A
p.Gly145Asp (Legacy AA No. 117)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 4
Mutation Effect: 
Missense
Codon Change: 
434G>A
No. of Patients Reported: 
1
Phenotype: 
NA
Association: 
Unknown
Allele Count *: 
4
Allele Number *: 
251334
Allele Frequency *: 
0.000016

References and Comments:

NCBI Clinvar Variation ID: 1312861
NA

Patient Information: Show


Structural Interpretation:

Please click HERE for in-depth variant analysis.



  c.437G>A
p.Arg146Gln (Legacy AA No. 118)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 4
Mutation Effect: 
Missense
Codon Change: 
437G>A
No. of Patients Reported: 
2
Phenotype: 
NA
Association: 
Unknown
Allele Count *: 
31
Allele Number *: 
282724
Allele Frequency *: 
0.00011

References and Comments:

NCBI Clinvar Variation ID: 293640
NA

Patient Information: Show


Structural Interpretation:

Please click HERE for in-depth variant analysis.



  c.439G>T
p.Glu147* (Legacy AA No. 119)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 4
Mutation Effect: 
Nonsense
Codon Change: 
439G>T
No. of Patients Reported: 
7
Phenotype: 
Asymptomatic
Association: 
thrombosis
Allele Count *: 
NA
Allele Number *: 
NA
Allele Frequency *: 
NA

References and Comments:

Mumford et al 2003
NA

Patient Information: Show


Structural Interpretation:

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



  c.479C>G
p.Pro160Arg (Legacy AA No. 132)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 4
Mutation Effect: 
Missense
Codon Change: 
479C>G
No. of Patients Reported: 
3
Phenotype: 
Severe
Association: 
FV Deficiency
Allele Count *: 
NA
Allele Number *: 
NA
Allele Frequency *: 
NA

References and Comments:

Paraboschi et al 2012
GI bleeding following birth treated with fresh-frozen plasma; heterozygous for p.Met2148Thr

Patient Information: Show


Structural Interpretation:

Please click HERE for in-depth variant analysis.



  c.524A>G
p.His175Arg (Legacy AA No. 147)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 4
Mutation Effect: 
Missense
Codon Change: 
524A>G
No. of Patients Reported: 
8
Phenotype: 
Moderate
Association: 
FV Deficiency
Allele Count *: 
94
Allele Number *: 
282760
Allele Frequency *: 
0.000332

References and Comments:

Liu et al 2014A
tooth extraction caused severe and prolonged bleeding

Patient Information: Show


Structural Interpretation:

Please click HERE for in-depth variant analysis.



  c.538G>A
p.Glu180Lys (Legacy AA No. 152)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 4
Mutation Effect: 
Missense
Codon Change: 
538G>A
No. of Patients Reported: 
2
Phenotype: 
NA
Association: 
Unknown
Allele Count *: 
2
Allele Number *: 
251376
Allele Frequency *: 
0.000008

References and Comments:

NCBI Clinvar Variation ID: 293638
NA

Patient Information: Show


Structural Interpretation:

Please click HERE for in-depth variant analysis.



  c.552NA
p.Ser184Ser (Legacy AA No. 156)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 4
Mutation Effect: 
Silent
Codon Change: 
552NA
No. of Patients Reported: 
4
Phenotype: 
NA
Association: 
FV Deficiency
Allele Count *: 
76222
Allele Number *: 
282662
Allele Frequency *: 
0.269658

References and Comments:

Janicki et al 2013
NA

Patient Information: Show


Structural Interpretation:

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



  c.566C>T
p.Pro189Leu (Legacy AA No. 161)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 4
Mutation Effect: 
Missense
Codon Change: 
566C>T
No. of Patients Reported: 
1
Phenotype: 
Asymptomatic
Association: 
FV Deficiency
Allele Count *: 
29
Allele Number *: 
282760
Allele Frequency *: 
0.000103

References and Comments:

Al-Numair et al 2019
mild menorrhagia

Patient Information: Show


Structural Interpretation:

Please click HERE for in-depth variant analysis.



  c.578G>C
p.Cys193Ser (Legacy AA No. 165)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 4
Mutation Effect: 
Missense
Codon Change: 
578G>C
No. of Patients Reported: 
2
Phenotype: 
Severe
Association: 
FV Deficiency
Allele Count *: 
1
Allele Number *: 
251296
Allele Frequency *: 
0.000004

References and Comments:

Nuzzo et al 2015A
muscle caused by mild trauma needing fresh frozen plasma treatment

Patient Information: Show


Structural Interpretation:

Please click HERE for in-depth variant analysis.



  c.585delA
p.Thr197Profs*2 (Legacy AA No. 169)
Mutation Type: 
Deletion
Domain: 
d5A1
Location: 
Exon 4
Mutation Effect: 
Frameshift
Codon Change: 
585delA
No. of Patients Reported: 
1
Phenotype: 
Moderate
Association: 
FV Deficiency
Allele Count *: 
NA
Allele Number *: 
NA
Allele Frequency *: 
NA

References and Comments:

Hou et al 2003
NA

Patient Information: Show


Structural Interpretation:

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



  c.601_678dup
p.Gly201_Gln226dup (Legacy AA No. 173)
Mutation Type: 
Duplication
Domain: 
d5A1
Location: 
Exon 5
Mutation Effect: 
Inframe
Codon Change: 
601_678dup
No. of Patients Reported: 
1
Phenotype: 
Asymptomatic
Association: 
FV Deficiency
Allele Count *: 
NA
Allele Number *: 
NA
Allele Frequency *: 
NA

References and Comments:

Cutler et al 2010
NA

Patient Information: Show


Structural Interpretation:

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



  c.628C>A
p.Gln210Lys (Legacy AA No. 182)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 5
Mutation Effect: 
Missense
Codon Change: 
628C>A
No. of Patients Reported: 
2
Phenotype: 
NA
Association: 
Unknown
Allele Count *: 
64
Allele Number *: 
282576
Allele Frequency *: 
0.000226

References and Comments:

NCBI Clinvar Variation ID: 875606
NA

Patient Information: Show


Structural Interpretation:

Please click HERE for in-depth variant analysis.



  c.647C>T
p.Ala216Val (Legacy AA No. 188)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 5
Mutation Effect: 
Missense
Codon Change: 
647C>T
No. of Patients Reported: 
1
Phenotype: 
Asymptomatic
Association: 
FV Deficiency
Allele Count *: 
1
Allele Number *: 
251168
Allele Frequency *: 
0.000004

References and Comments:

Delev et al 2009
invasive procedure caused bleeding

Patient Information: Show


Structural Interpretation:

Please click HERE for in-depth variant analysis.



  c.653T>C
p.Phe218Ser (Legacy AA No. 190)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 5
Mutation Effect: 
Missense
Codon Change: 
653T>C
No. of Patients Reported: 
5
Phenotype: 
Mild
Association: 
FV Deficiency
Allele Count *: 
NA
Allele Number *: 
NA
Allele Frequency *: 
NA

References and Comments:

Kanaji et al 2009
age 80

Patient Information: Show


Structural Interpretation:

Please click HERE for in-depth variant analysis.



  c.692T>G
p.Met231Arg (Legacy AA No. 203)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 5
Mutation Effect: 
Missense
Codon Change: 
692T>G
No. of Patients Reported: 
2
Phenotype: 
Severe
Association: 
FV Deficiency
Allele Count *: 
NA
Allele Number *: 
NA
Allele Frequency *: 
NA

References and Comments:

Chapla et al 2011
intracranial bleeding immediately after birth, umbilical stump bleeding

Patient Information: Show


Structural Interpretation:

Please click HERE for in-depth variant analysis.



  c.698C>G
p.Thr233Arg (Legacy AA No. 205)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 5
Mutation Effect: 
Missense
Codon Change: 
698C>G
No. of Patients Reported: 
5
Phenotype: 
Severe
Association: 
FV Deficiency
Allele Count *: 
NA
Allele Number *: 
NA
Allele Frequency *: 
NA

References and Comments:

Frotscher et al 2012
GI bleeding at age 3 weeks and additional minor bleeds

Patient Information: Show


Structural Interpretation:

Please click HERE for in-depth variant analysis.



  c.706G>T
p.Gly236* (Legacy AA No. 208)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 5
Mutation Effect: 
Nonsense
Codon Change: 
706G>T
No. of Patients Reported: 
1
Phenotype: 
Asymptomatic
Association: 
FV Deficiency
Allele Count *: 
NA
Allele Number *: 
NA
Allele Frequency *: 
NA

References and Comments:

Cutler et al 2010
NA

Patient Information: Show


Structural Interpretation:

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



  c.731-2A>C
NA (Legacy AA No. NA)
Mutation Type: 
Point
Domain: 
Intron
Location: 
Intron 5
Mutation Effect: 
Intronic
Codon Change: 
731-2A>C
No. of Patients Reported: 
1
Phenotype: 
Asymptomatic
Association: 
FV Deficiency
Allele Count *: 
NA
Allele Number *: 
NA
Allele Frequency *: 
NA

References and Comments:

Delev et al 2009
NA

Patient Information: Show


Structural Interpretation:

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



  c.746C>T
p.Ala249Val (Legacy AA No. 221)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 6
Mutation Effect: 
Missense
Codon Change: 
746C>T
No. of Patients Reported: 
3
Phenotype: 
Asymptomatic
Association: 
FV Deficiency
Allele Count *: 
NA
Allele Number *: 
NA
Allele Frequency *: 
NA

References and Comments:

Murray et al 1995
gum and rectal bleeding; epistaxis

Patient Information: Show


Structural Interpretation:

Please click HERE for in-depth variant analysis.



  c.763T>C
p.Trp255Arg (Legacy AA No. 227)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 6
Mutation Effect: 
Missense
Codon Change: 
763T>C
No. of Patients Reported: 
4
Phenotype: 
Moderate
Association: 
FV Deficiency
Allele Count *: 
NA
Allele Number *: 
NA
Allele Frequency *: 
NA

References and Comments:

Delev et al 2009
bleeding after invasive procedures; menorrhagia

Patient Information: Show


Structural Interpretation:

Please click HERE for in-depth variant analysis.



  c.773T>C
p.Leu258Pro (Legacy AA No. 230)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 6
Mutation Effect: 
Missense
Codon Change: 
773T>C
No. of Patients Reported: 
1
Phenotype: 
NA
Association: 
Unknown
Allele Count *: 
NA
Allele Number *: 
NA
Allele Frequency *: 
NA

References and Comments:

NCBI Clinvar Variation ID: 627377
NA

Patient Information: Show


Structural Interpretation:

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  c.776G>A
p.Gly259Glu (Legacy AA No. 231)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 6
Mutation Effect: 
Missense
Codon Change: 
776G>A
No. of Patients Reported: 
2
Phenotype: 
Mild
Association: 
FV Deficiency
Allele Count *: 
NA
Allele Number *: 
NA
Allele Frequency *: 
NA

References and Comments:

Cutler et al 2010
NA

Patient Information: Show


Structural Interpretation:

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  c.785C>T
p.Ser262Leu (Legacy AA No. 234)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 6
Mutation Effect: 
Missense
Codon Change: 
785C>T
No. of Patients Reported: 
5
Phenotype: 
Mild
Association: 
FV Deficiency
Allele Count *: 
2
Allele Number *: 
31386
Allele Frequency *: 
0.000064

References and Comments:

Jin et al 2009
NA

Patient Information: Show


Structural Interpretation:

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  c.785C>G
p.Ser262Trp (Legacy AA No. 234)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 6
Mutation Effect: 
Missense
Codon Change: 
785C>G
No. of Patients Reported: 
2
Phenotype: 
Mild
Association: 
FV Deficiency
Allele Count *: 
2
Allele Number *: 
251130
Allele Frequency *: 
0.000008

References and Comments:

Caudill et al 2007
NA

Patient Information: Show


Structural Interpretation:

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  c.833A>G
p.Gln278Arg (Legacy AA No. 250)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 6
Mutation Effect: 
Missense
Codon Change: 
833A>G
No. of Patients Reported: 
1
Phenotype: 
Asymptomatic
Association: 
FV Deficiency
Allele Count *: 
NA
Allele Number *: 
NA
Allele Frequency *: 
NA

References and Comments:

Delev et al 2009
bleeding after invasive procedures

Patient Information: Show


Structural Interpretation:

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  c.834G>C
p.Gln278His (Legacy AA No. 250)
Mutation Type: 
Point
Domain: 
d5B
Location: 
Exon 6
Mutation Effect: 
Missense
Codon Change: 
834G>C
No. of Patients Reported: 
1
Phenotype: 
NA
Association: 
Unknown
Allele Count *: 
6
Allele Number *: 
251348
Allele Frequency *: 
0.000024

References and Comments:

NCBI Clinvar Variation ID: 806280
NA

Patient Information: Show


Structural Interpretation:

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  c.886G>A
p.Ala296Thr (Legacy AA No. 268)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 6
Mutation Effect: 
Missense
Codon Change: 
886G>A
No. of Patients Reported: 
2
Phenotype: 
NA
Association: 
Unknown
Allele Count *: 
6
Allele Number *: 
282804
Allele Frequency *: 
0.000021

References and Comments:

NCBI Clinvar Variation ID: 293634
NA

Patient Information: Show


Structural Interpretation:

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  c.910G>A
p.Gly304Arg (Legacy AA No. 276)
Mutation Type: 
Point
Domain: 
d5A1
Location: 
Exon 6
Mutation Effect: 
Missense
Codon Change: 
910G>A
No. of Patients Reported: 
1
Phenotype: 
NA
Association: 
Unknown
Allele Count *: 
1
Allele Number *: 
251414
Allele Frequency *: 
0.000004

References and Comments:

NCBI Clinvar Variation ID: 806279
NA

Patient Information: Show


Structural Interpretation:

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Factor X Variant Database