EAHAD Factor VIII Variant Database
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Search Results: 4 unique variants retrieved


  c.676A>C
p.(Ser226Arg) (Legacy AA No.207)
Variant Type:
Point
Domain:
A1
Sequence Context:
AGT > CGT
Variant Effect:
Missense
Location:
Exon 6
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.676A>T
p.(Ser226Cys) (Legacy AA No.207)
Variant Type:
Point
Domain:
A1
Sequence Context:
AGT > TGT
Variant Effect:
Missense
Location:
Exon 6
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.677G>T
p.(Ser226Ile) (Legacy AA No.207)
Variant Type:
Point
Domain:
A1
Sequence Context:
AGT > ATT
Variant Effect:
Missense
Location:
Exon 6
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.678_680delTTG
p.(Ser226_Trp227delinsArg) (Legacy AA No.207)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Inframe
Location:
Exon 6
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Inframe) of mutation at Exon 6
Individual Case Information : Show