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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.196G>A
p.(Glu66Lys) Legacy AA 20
Variant Type:
Point
Domain:
Gla
cDNA number:
196
Variant Effect:
Missense
Location:
Exon(2)
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
405
30
-
Mild
-
-
Centre B25 (unpublished)
3884
30
Mild
NO
United States
Johnsen et al (2017)
  c.197A>T
p.(Glu66Val) Legacy AA 20
Variant Type:
Point
Domain:
Gla
cDNA number:
197
Variant Effect:
Missense
Location:
Exon(2)
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
406
-
-
Moderate
-
Germany
-
Wulff et al (1995)
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