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Factor IX Gene (F9) Variant Database  

F9
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Search Results: 2 unique variants retrieved

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  c.1207G>T
p.(Gly403Cys) Legacy AA 357
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1207
Variant Effect:
Missense
Location:
Exon(8)
CpG:
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
3727
Centre B30 (unpublished)
  c.1208G>A
p.(Gly403Asp) Legacy AA 357
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1208
Variant Effect:
Missense
Location:
Exon(8)
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
2539
11
70
Mild
II
India
-
Quadros et al, (2009)
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