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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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  c.913T>A
p.(Tyr305Asn) Legacy AA 259
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
913
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
1835
-
-
-
China
-
Liu et al (2000)
  c.914A>G
p.(Tyr305Cys) Legacy AA 259
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
914
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
4762
2
Moderate
NO
United States
Johnsen et al (2017)
  c.915A>G
p.(Tyr305Cys) Legacy AA 259
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
915
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
6
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
1836
3
-
Moderate
-
New Zealand
-
Van de Water et al (1996)
1837
1
-
Moderate
-
-
Centre B30 (unpublished)
1838
-
-
Severe
-
Italy
-
Belvini et al (2005)
1839
-
-
-
United States
-
Li et al (2000)
1841
2
-
Moderate
-
India
-
Mukherjee et al (2004)
1842
<1
<1
Severe
-
United States
-
Bottema et al (1991)
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