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Factor IX Gene (F9) Variant Database  

F9
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Data Display Options:
UNIQUE (Without Case Data) :
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SCREEN TABLE
MULTIPLE (With Case Data) :
EXCEL/CSV
SCREEN TABLE



Search Results: 5 unique variants retrieved

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  c.304T>C
p.(Cys102Arg) Legacy AA 56
Variant Type:
Point
Domain:
EGF1
cDNA number:
304
Variant Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of cases reported:
8
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to show detailed structural analysis of this variant.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
628
<1
-
Severe
-
Switzerland
-
Alkan et al (1991)
629
<1
-
Severe
-
-
Centre B21 (unpublished)
630
<1
-
Severe
-
-
Centre B30 (unpublished)
631
<1
-
Severe
-
India
-
Mukherjee et al (2004)
632
1.3
-
Moderate
-
-
Centre B5 (unpublished)
633
<1
-
Severe
-
United Kingdom
-
Enayat et al (2004)
634
<1
-
Severe
-
India
-
Jayandharan et al (2003)
3663
-
-
Severe
-
NO
United States
-
Miller et al (2012)
  c.304T>A
p.(Cys102Ser) Legacy AA 56
Variant Type:
Point
Domain:
EGF1
cDNA number:
304
Variant Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of cases reported:
2
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to show detailed structural analysis of this variant.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
626
1
2
Moderate
II
France
-
Tartary et al (1993)
627
-
-
-
-
Centre B39 (unpublished)
  c.305G>T
p.(Cys102Phe) Legacy AA 56
Variant Type:
Point
Domain:
EGF1
cDNA number:
305
Variant Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to show detailed structural analysis of this variant.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
3638
<1
-
Familial
Severe
-
NO
Argentina
-
Radic et al (2013)
  c.305G>C
p.(Cys102Ser) Legacy AA 56
Variant Type:
Point
Domain:
EGF1
cDNA number:
305
Variant Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to show detailed structural analysis of this variant.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
639
<1
<1
Severe
-
Germany
-
Ludwig et al (1991)
  c.305G>A
p.(Cys102Tyr) Legacy AA 56
Variant Type:
Point
Domain:
EGF1
cDNA number:
305
Variant Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of cases reported:
6
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to show detailed structural analysis of this variant.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
635
1
2
Moderate
II
United States
-
Koeberl et al (1990B)
636
<1
<1
Severe
-
-
Centre B15 (unpublished)
637
-
-
Sporadic
Severe
-
Ireland
-
Jenkins et al (2008)
638
-
-
Severe
-
China
-
Liu et al (2000)
3574
-
-
Familial
Moderate
-
NO
China
-
Yu et al (2012)
3635
-
-
Familial
Moderate
-
NO
China
-
Yu et al (2012)
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