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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.1345C>T
p.(Arg449Trp) Legacy AA 403
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1345
Variant Effect:
Missense
Location:
Exon(8)
CpG:
Y
No. of cases reported:
19
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.1346G>A
p.(Arg449Gln) Legacy AA 403
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1346
Variant Effect:
Missense
Location:
Exon(8)
CpG:
Y
No. of cases reported:
7
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.1347delG
p.(Arg449fs*?) Legacy AA 403
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
1347
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 (Deletion | Frameshift) of variant at Exon 8.
Individual Case Information : Show