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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.59T>A
p.(Leu20*) Legacy AA -27
Variant Type:
Point
Domain:
Signal Peptide
cDNA number:
59
Variant Effect:
Nonsense
Location:
Exon(1)
CpG:
N
No. of cases reported:
1
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 1.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
98
<1
-
Severe
-
France
-
Costa et al (2000)
  c.59T>C
p.(Leu20Ser) Legacy AA -27
Variant Type:
Point
Domain:
Signal Peptide
cDNA number:
59
Variant Effect:
Missense
Location:
Exon(1)
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
99
-
-
Severe
-
China
-
Liu et al (2000)
100
0
-
Severe
-
Italy
-
Belvini et al (2005)
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