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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.989A>G
p.(Tyr330Cys) Legacy AA 284
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
989
Variant Effect:
Missense
Location:
Exon(8)
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
1921
-
-
-
-
Centre B34 (unpublished)
1922
<5
-
Moderate
-
United States
-
Ketterling et al (1999B)
  c.990C>A
p.(Tyr330*) Legacy AA 284
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
990
Variant Effect:
Nonsense
Location:
Exon(8)
CpG:
N
No. of cases reported:
4
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
1923
<1
2
Severe
II
France
-
Tartary et al (1993)
1924
1
<1
Moderate
I
United States
-
Ketterling et al (1993B)
1925
-
-
Severe
-
Italy
-
Belvini et al (2005)
1926
1
-
Moderate
-
-
Centre B13 (unpublished)
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