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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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  2. 1
  3. »
  c.352T>A
p.(Trp118Arg) Legacy AA 72
Variant Type:
Point
Domain:
EGF1
cDNA number:
352
Variant Effect:
Nonsense
Location:
Exon(4)
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 (Point | Nonsense) of variant at Exon 4.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
756
6
-
Mild
-
United Kingdom
-
Saad et al (1994)
  c.352T>A
p.(Trp118Arg) Legacy AA 72
Variant Type:
Point
Domain:
EGF1
cDNA number:
352
Variant Effect:
Missense
Location:
Exon(4)
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
758
-
-
-
United Kingdom
-
Saad et al (1994)
  c.353G>A
p.(Trp118*) Legacy AA 72
Variant Type:
Point
Domain:
EGF1
cDNA number:
353
Variant Effect:
Nonsense
Location:
Exon(4)
CpG:
N
No. of cases reported:
8
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 (Point | Nonsense) of variant at Exon 4.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
759
<1
-
Severe
-
United States
-
Li et al (2000)
760
1
-
Moderate
-
United States
-
Thorland et al (1995)
761
-
-
-
-
Centre B42 (unpublished)
762
<1
-
Severe
-
-
Centre B25 (unpublished)
763
<1
-
Severe
-
France
-
Ghanem et al (1993)
764
<1
-
Severe
-
Turkey
-
Onay et al (2003)
4576
<1
Severe
NO
United States
Johnsen et al (2017)
4577
<1
Severe
NO
United States
Johnsen et al (2017)
  c.354_356dup
p.(Trp118dup) Legacy AA 72
Variant Type:
Duplication
Domain:
EGF1
cDNA number:
354
Variant Effect:
Inframe
Location:
Exon(4)
CpG:
N
No. of cases reported:
1
No. of bases:
3
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 | Inframe) of variant at Exon 4.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
3642
-
-
Severe
-
NO
United States
-
Miller et al (2012)
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