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Factor IX Gene (F9) Variant Database  

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



Search Results: 3 unique variants retrieved

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  c.343T>A
p.(Tyr115Asn) Legacy AA 69
Variant Type:
Point
Domain:
EGF1
cDNA number:
343
Variant Effect:
Missense
Location:
Exon(4)
CpG:
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
740
<1
-
Severe
-
United States
-
Ketterling et al (1999B)
4004
<1
Severe
NO
United States
Johnsen et al (2017)
  c.343T>C
p.(Tyr115His) Legacy AA 69
Variant Type:
Point
Domain:
EGF1
cDNA number:
343
Variant Effect:
Missense
Location:
Exon(4)
CpG:
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
4742
5
Moderate
NO
United States
Johnsen et al (2017)
4743
6
Mild
United States
Johnsen et al (2017)
  c.344A>G
p.(Tyr115Cys) Legacy AA 69
Variant Type:
Point
Domain:
EGF1
cDNA number:
344
Variant Effect:
Missense
Location:
Exon(4)
CpG:
N
No. of cases reported:
10
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
741
<1
-
Severe
-
Germany
-
Knobloch et al (1993)
742
<1
-
Severe
-
Germany
-
Knobloch et al (1993)
743
<1
-
Severe
-
France
-
Ghanem et al (1993)
744
-
-
-
United Kingdom
-
Saad et al (1994)
745
-
-
Severe
-
Germany
-
Wulff et al (1995)
746
-
-
-
United States
-
Heit et al (1998)
747
<1
-
Severe
-
-
Centre B13 (unpublished)
3772
United States
Li et al (2000)
3490
<1
-
Familial
Severe
-
NO
Argentina
-
Radic et al (2013)
3575
-
-
Familial
Severe
-
NO
China
-
Yu et al (2012)
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