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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: 4 unique variants retrieved

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  c.289T>C
p.(Cys97Arg) Legacy AA 51
Variant Type:
Point
Domain:
EGF1
cDNA number:
289
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
601
<1
2
Severe
II
France
-
Costa et al (2000)
602
42
-
Mild
-
-
Centre B30 (unpublished)
  c.289T>A
p.(Cys97Ser) Legacy AA 51
Variant Type:
Point
Domain:
EGF1
cDNA number:
289
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
603
-
-
-
Spain
-
Montejo et al (1999)
  c.290G>A
p.(Cys97Tyr) Legacy AA 51
Variant Type:
Point
Domain:
EGF1
cDNA number:
290
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
604
<1
-
Severe
-
-
Centre B13 (unpublished)
  c.291T>G
p.(Cys97Trp) Legacy AA 51
Variant Type:
Point
Domain:
EGF1
cDNA number:
291
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
605
<1
<1
Severe
-
France
-
Ghanem et al (1993)
606
<1
5
Severe
II
NO
France
-
Attali et al (1999)
607
<1
<10
Severe
-
NO
France
-
Attali et al (1999)
608
1
5
Moderate
II
NO
France
-
Attali et al (1999)
609
-
-
-
-
Centre B13 (unpublished)
610
30
-
Mild
-
United Kingdom
-
Saad et al (1994)
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