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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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  2. 1
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  c.793G>C
p.(Ala265Pro) Legacy AA 219
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
793
Variant Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of cases reported:
3
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
1472
<1
-
Severe
-
-
Centre B12 (unpublished)
3714
<1
24
Severe
NO
France
Attali et al (1999)
4100
<1
Severe
NO
United States
Johnsen et al (2017)
  c.793G>A
p.(Ala265Thr) Legacy AA 219
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
793
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
1470
-
-
-
Germany
-
Wulff and Herrmann (1999)
1471
-
-
Mild
-
Germany
-
Wulff et al (1995)
  c.794C>A
p.(Ala265Asp) Legacy AA 219
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
794
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
1473
<1
-
Severe
-
India
-
Jayandharan et al (2003)
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