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Factor IX Gene (F9) Variant Database  

F9
Data Display Options:
UNIQUE (Without Case Data) :
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SCREEN TABLE
MULTIPLE (With Case Data) :
EXCEL/CSV
SCREEN TABLE



Search Results: 3 unique variants retrieved

  c.424G>T
p.(Glu142*) Legacy AA 96
Variant Type:
Point
Domain:
EGF2
cDNA number:
424
Variant Effect:
Nonsense
Location:
Exon(5)
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 5.
Individual Case Information : Show
  c.424G>A
p.(Glu142Lys) Legacy AA 96
Variant Type:
Point
Domain:
EGF2
cDNA number:
424
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
  c.425_426ins(322)
p.(?) Legacy AA 96
Variant Type:
Insertion
Domain:
EGF2
cDNA number:
425
Variant Effect:
Frameshift
Location:
Exon(5)
CpG:
-
No. of cases reported:
1
No. of bases:
0.322kb
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Insertion | Frameshift) of variant at Exon 5.
Individual Case Information : Show