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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: 4 unique variants retrieved

  c.956T>G
p.(Leu319Arg) Legacy AA 273
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
956
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
2
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.956T>A
p.(Leu319Gln) Legacy AA 273
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
956
Variant Effect:
Missense
Location:
Exon(8)
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.956T>C
p.(Leu319Pro) Legacy AA 273
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
956
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
4
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.956_958delinsAGA
p.(Leu319_Glu320delinsGlnLys) Legacy AA 273
Variant Type:
Indel
Domain:
Serine Protease
cDNA number:
956
Variant Effect:
Inframe
Location:
Exon(8)
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 (Indel | Inframe) of variant at Exon 8.
Individual Case Information : Show