EAHAD Logo

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.907_909del
p.(His303del) Legacy AA 257
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
907
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 (Deletion | Inframe) of variant at Exon 8.
Individual Case Information : Show
  c.907delC
p.(His303Thrfs*23) Legacy AA 257
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
907
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
  c.907C>T
p.(His303Tyr) Legacy AA 257
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
907
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
3
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.909delC
p.(His303Glnfs*7) Legacy AA 257
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
909
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