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Factor IX Gene (F9) Variant Database  

F9
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Data Display Options:
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SCREEN TABLE
MULTIPLE (With Case Data) :
EXCEL/CSV
SCREEN TABLE



Search Results: 5 unique variants retrieved

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  c.1003T>C
p.(Cys335Arg) Legacy AA 289
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1003
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
1935
-
-
-
Germany
-
Wulff and Herrmann (1999)
  c.1003T>A
p.(Cys335Ser) Legacy AA 289
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1003
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
1936
<1
-
Sporadic
Severe
-
India
-
Jayandharan et al (2005)
  c.1004G>T
p.(Cys335Phe) Legacy AA 289
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1004
Variant Effect:
Missense
Location:
Exon(8)
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
1939
-
-
-
United States
-
Gostout et al (1993)
1940
<1
-
Severe
-
United States
-
Driscoll et al (1996)
1942
<1
-
Severe
-
-
Centre B13 (unpublished)
1943
2
-
Moderate
-
United Kingdom
-
Saad et al (1994)
  c.1004G>C
p.(Cys335Ser) Legacy AA 289
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1004
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
1944
4
-
Moderate
-
-
Centre B11 (unpublished)
  c.1004G>A
p.(Cys335Tyr) Legacy AA 289
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1004
Variant Effect:
Missense
Location:
Exon(8)
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
1937
<1
-
Severe
-
-
Centre B25 (unpublished)
1938
<1
-
Severe
-
Italy
-
Belvini et al (2005)
3603
-
-
Moderate
-
NO
China
-
Yu et al (2012)
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