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Factor IX Gene (F9) Variant Database  

F9
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Search Results: 4 unique variants retrieved

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  c.948dup
p.(Ala317Cysfs*22) Legacy AA 271
Variant Type:
Duplication
Domain:
Serine Protease
cDNA number:
948
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Duplication | Frameshift) of variant at Exon 8.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
2933
<1
-
Severe
-
-
Centre B12 (unpublished)
  c.949G>A
p.(Ala317Thr) Legacy AA 271
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
949
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
1879
30
-
Mild
-
Tunisia
-
Elmahmoudi et al (2011)
  c.950C>A
p.(Ala317Asp) Legacy AA 271
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
950
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
1880
<1
-
Severe
-
Germany
-
Wulff et al (2001)
  c.950C>T
p.(Ala317Val) Legacy AA 271
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
950
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
9
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
1881
16
-
Mild
-
United Kingdom
-
Saad et al (1994)
1882
20
-
Mild
-
United Kingdom
-
Saad et al (1994)
1883
-
-
-
United Kingdom
-
Saad et al (1994)
1884
26
-
Mild
-
-
Centre B30 (unpublished)
1885
-
-
-
-
Centre B39 (unpublished)
1886
-
-
-
-
Centre B39 (unpublished)
1887
1
4
Moderate
II
United States
-
Koeberl et al (1990B)
1889
<1
-
Severe
-
United States
-
Driscoll et al (1996)
3767
20
Mild
Ireland
24 cases in 10 families (FIX:C range 17-23)
Jenkins et al (2008)
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