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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.784A>T
p.(Ile262Phe) Legacy AA 216
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
784
Variant Effect:
Missense
Location:
Exon(7)
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
1457
<1
-
Severe
-
Italy
-
Belvini et al (2005)
4098
<1
Severe
NO
United States
Johnsen et al (2017)
  c.785T>C
p.(Ile262Thr) Legacy AA 216
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
785
Variant Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of cases reported:
7
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
1458
7
-
Mild
-
United States
-
Koeberl et al (1990B)
1459
4
4
Moderate
I
United Kingdom
-
Green et al (1991)
1460
-
-
-
-
Centre B18 (unpublished)
1461
5.4
-
Moderate
-
India
-
Mukherjee et al (2004)
1462
4
-
Moderate
-
India
-
Mukherjee et al (2004)
1463
4
-
Moderate
-
United States
-
Chen et al (1991a)
4099
3
Moderate
NO
United States
Johnsen et al (2017)
  c.786T>G
p.(Ile262Met) Legacy AA 216
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
786
Variant Effect:
Missense
Location:
Exon(7)
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
1464
15
4
Mild
I
United States
-
Bottema et al (1991)
3673
-
-
Moderate
-
NO
United States
-
Miller et al (2012)
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