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


  c.403G>A
p.(Asp135Asn) (Legacy AA No.116)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAT > AAT
Variant Effect:
Missense
Location:
Exon 4
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.403G>T
p.(Asp135Tyr) (Legacy AA No.116)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAT > TAT
Variant Effect:
Missense
Location:
Exon 4
No of bases:
1
No. of cases reported:
6
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.404A>G
p.(Asp135Gly) (Legacy AA No.116)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAT > GGT
Variant Effect:
Missense
Location:
Exon 4
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.405T>A
p.(Asp135Glu) (Legacy AA No.116)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAT > GAA
Variant Effect:
Missense
Location:
Exon 4
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