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Factor IX Gene (F9) Variant Database  

F9
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Data Display Options:
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Search Results: 2 unique variants retrieved

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  c.1217C>G
p.(Ser406*) Legacy AA 360
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1217
Variant Effect:
Nonsense
Location:
Exon(8)
CpG:
N
No. of cases reported:
3
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Point | Nonsense) of variant at Exon 8.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
2544
<1
-
Severe
-
France
-
Ghanem et al (1993)
2545
<1
-
Severe
-
France
-
Tartary et al (1993)
2546
1.5
-
Moderate
-
France
-
Ghanem et al (1993)
  c.1217C>T
p.(Ser406Leu) Legacy AA 360
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1217
Variant Effect:
Missense
Location:
Exon(8)
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
2547
1
-
Moderate
-
United Kingdom
-
Saad et al (1994)
2548
<1
-
Severe
-
France
-
Ghanem et al (1993)
2549
-
-
-
-
Centre B31 (unpublished)
2550
<1
95
Severe
II
NO
Italy
-
Bicocchi et al (2006)
2551
2
130
Moderate
II
United States
-
Chen et al (1991a)
2552
<1
-
Severe
-
France
-
Costa et al (2000)
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