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


  c.223G>T
p.(Asp75Tyr) (Legacy AA No.56)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAT > TAT
Variant Effect:
Missense
Location:
Exon 2
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.224A>G
p.(Asp75Gly) (Legacy AA No.56)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAT > GGT
Variant Effect:
Missense
Location:
Exon 2
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.224A>T
p.(Asp75Val) (Legacy AA No.56)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAT > GTT
Variant Effect:
Missense
Location:
Exon 2
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.224delA
p.(Asp75Valfs*17) (Legacy AA No.56)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 2
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 (Deletion | Frameshift) of mutation at Exon 2
Individual Case Information : Show

  c.225T>A
p.(Asp75Glu) (Legacy AA No.56)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAT > GAA
Variant Effect:
Missense
Location:
Exon 2
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