EAHAD Factor VIII Variant Database
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Search Results: 5 unique variants retrieved


  c.6738delA
p.(Glu2247Metfs*11) (Legacy AA No.2228)
Variant Type:
Deletion
Domain:
C2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 25
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 25
Individual Case Information : Show

  c.6739G>T
p.(Glu2247*) (Legacy AA No.2228)
Variant Type:
Point
Domain:
C2
Sequence Context:
GAG > TAG
Variant Effect:
Nonsense
Location:
Exon 25
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 25
Individual Case Information : Show

  c.6739G>A
p.(Glu2247Lys) (Legacy AA No.2228)
Variant Type:
Point
Domain:
C2
Sequence Context:
GAG > AAG
Variant Effect:
Missense
Location:
Exon 25
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.6740_6741delAG
p.(Glu2247Valfs*137) (Legacy AA No.2228)
Variant Type:
Deletion
Domain:
C2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 25
No of bases:
2
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 25
Individual Case Information : Show

  c.6741G>T/C
p.(Glu2247Asp) (Legacy AA No.2228)
Variant Type:
Point
Domain:
C2
Sequence Context:
GAG > GAT/C
Variant Effect:
Missense
Location:
Exon 25
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show