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Factor IX Gene (F9) Variant Database  

F9
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Search Results: 3 unique variants retrieved

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  c.769G>A
p.(Val257Ile) Legacy AA 211
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
769
Variant Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of cases reported:
2
No. of bases:
1
Allele Frequency (MAF):
0.0001364
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
1437
<1
<1
Severe
-
Japan
-
Seita et al, 2009
3798
Japan
Satoh et al (1993)
  c.769G>T
p.(Val257Phe) Legacy AA 211
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
769
Variant Effect:
Missense
Location:
Exon(7)
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
1435
7
-
Mild
-
-
Centre B23 (unpublished)
1436
4
-
Moderate
-
United States
-
Chen et al (1991a)
  c.770T>A
p.(Val257Asp) Legacy AA 211
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
770
Variant Effect:
Missense
Location:
Exon(7)
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
1438
<1
<1
Severe
-
-
Centre B38 (unpublished)
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