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Factor IX Gene (F9) Variant Database  

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



Search Results: 3 unique variants retrieved

  c.1112A>C
p.(Tyr371Ser) Legacy AA 325
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1112
Variant Effect:
Missense
Location:
Exon(8)
CpG:
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.1113C>A
p.(Tyr371*) Legacy AA 325
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1113
Variant Effect:
Nonsense
Location:
Exon(8)
CpG:
N
No. of cases reported:
3
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 8.
Individual Case Information : Show
  c.1113C>G
p.(Tyr371*) Legacy AA 325
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1113
Variant Effect:
Nonsense
Location:
Exon(8)
CpG:
N
No. of cases reported:
4
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 8.
Individual Case Information : Show