EAHAD Factor VIII Variant Database
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Search Results: 3 unique variants retrieved


  c.433G>C
p.(Asp145His) (Legacy AA No.126)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAT > CAT
Variant Effect:
Missense
Location:
Exon 4
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.433G>T
p.(Asp145Tyr) (Legacy AA No.126)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAT > TAT
Variant Effect:
Missense
Location:
Exon 4
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.435_436insTTT
p.(Asp145_Lys146insPhe) (Legacy AA No.126)
Variant Type:
Insertion
Domain:
A1
Sequence Context:
Variant Effect:
Inframe
Location:
Exon 4
No of bases:
3
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Insertion | Inframe) of mutation at Exon 4
Individual Case Information : Show