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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: 3 unique variants retrieved

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  c.178C>T
p.(Leu60Phe) Legacy AA 14
Variant Type:
Point
Domain:
Gla
cDNA number:
178
Variant Effect:
Missense
Location:
Exon(2)
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
3657
-
-
Mild
-
NO
United States
-
Miller et al (2012)
  c.179_180delTT
p.(Leu60Argfs*10) Legacy AA 14
Variant Type:
Deletion
Domain:
Gla
cDNA number:
179
Variant Effect:
Frameshift
Location:
Exon(2)
CpG:
N
No. of cases reported:
1
No. of bases:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Deletion | Frameshift) of variant at Exon 2.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
3079
4
4
Moderate
I
-
Centre B23 (unpublished)
  c.179T>C
p.(Leu60Pro) Legacy AA 14
Variant Type:
Point
Domain:
Gla
cDNA number:
179
Variant Effect:
Missense
Location:
Exon(2)
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
383
6
-
Mild
-
-
Centre B10 (unpublished)
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