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Factor IX Gene (F9) Variant Database  

F9
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Search Results: 5 unique variants retrieved

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  c.507C>T
p.(Cys170Phe) Legacy AA 124
Variant Type:
Point
Domain:
EGF2
cDNA number:
507
Variant Effect:
Missense
Location:
Exon(5)
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
987
<1
-
Severe
-
Germany
-
Wulff et al (2001)
  c.508T>C
p.(Cys170Arg) Legacy AA 124
Variant Type:
Point
Domain:
EGF2
cDNA number:
508
Variant Effect:
Missense
Location:
Exon(5)
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
988
-
-
-
-
Centre B18 (unpublished)
989
0
-
Severe
-
Italy
-
Belvini et al (2005)
4034
<1
Severe
NO
United States
Johnsen et al (2017)
  c.509G>T
p.(Cys170Phe) Legacy AA 124
Variant Type:
Point
Domain:
EGF2
cDNA number:
509
Variant Effect:
Missense
Location:
Exon(5)
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
997
-
-
-
-
Centre B18 (unpublished)
  c.509G>C
p.(Cys170Ser) Legacy AA 124
Variant Type:
Point
Domain:
EGF2
cDNA number:
509
Variant Effect:
Missense
Location:
Exon(5)
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
998
<1
-
Severe
-
United States
-
Li et al (2000)
  c.509G>A
p.(Cys170Tyr) Legacy AA 124
Variant Type:
Point
Domain:
EGF2
cDNA number:
509
Variant Effect:
Missense
Location:
Exon(5)
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
991
2
-
Moderate
-
United States
-
Bottema et al (1991)
992
<1
-
Severe
-
-
Centre B30 (unpublished)
993
<1
-
Severe
-
India
-
Mahajan et al (2004)
994
-
-
-
China
-
Liu et al (2000)
995
<1
-
Severe
-
Italy
-
Belvini et al (2005)
4035
<1
Severe
NO
United States
Johnsen et al (2017)
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