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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.679G>T
p.(Val227Phe) Legacy AA 181
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
679
Variant Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of cases reported:
4
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
1312
<1
130
Severe
II
Netherlands
-
Bertina et al (1990)
1313
<1
117
Severe
II
Germany
-
Wulff et al (1999)
3590
-
-
Moderate
-
NO
China
-
Yu et al (2012)
3592
-
-
Moderate
-
NO
China
-
Yu et al (2012)
  c.680T>C
p.(Val227Ala) Legacy AA 181
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
680
Variant Effect:
Missense
Location:
Exon(6)
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
1315
<1
-
Severe
-
-
Centre B13 (unpublished)
  c.680T>A
p.(Val227Asp) Legacy AA 181
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
680
Variant Effect:
Missense
Location:
Exon(6)
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
1314
-
-
-
Germany
-
Wulff et al (1995)
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