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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: 2 unique variants retrieved

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  c.415G>A
p.(Gly139Ser) Legacy AA 93
Variant Type:
Point
Domain:
EGF2
cDNA number:
415
Variant Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of cases reported:
9
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
834
1
37
Moderate
II
-
Centre B14 (unpublished)
835
6
-
Mild
-
Spain
-
Montejo et al (1999)
836
2
30
Moderate
II
-
Centre B38 (unpublished)
837
<1
-
Severe
-
-
Centre B13 (unpublished)
839
<1
-
Severe
-
Italy
-
Belvini et al (2005)
840
3
22
Moderate
II
United States
-
Ketterling et al (1993A)
3474
<1
-
Severe
-
NO
Malaysia
-
Balraj et al (2012)
3475
<1
-
Severe
-
NO
Malaysia
-
Balraj et al (2012)
3476
1.5
-
Familial
Moderate
-
NO
Malaysia
-
Balraj et al (2012)
  c.416G>A
p.(Gly139Asp) Legacy AA 93
Variant Type:
Point
Domain:
EGF2
cDNA number:
416
Variant Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of cases reported:
5
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
841
2
30
Moderate
II
Denmark
-
Nielsen et al (1992)
842
-
-
Severe
-
Germany
-
Wulff et al (1995)
843
-
-
-
Germany
-
Wulff et al (2001)
3577
-
-
Sporadic
Severe
-
NO
China
-
Yu et al (2012)
4014
<1
Severe
United States
Johnsen et al (2017)
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