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


  c.337C>T
p.(His113Tyr) (Legacy AA No.94)
Variant Type:
Point
Domain:
A1
Sequence Context:
CAT > TAT
Variant Effect:
Missense
Location:
Exon 3
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.338A>G
p.(His113Arg) (Legacy AA No.94)
Variant Type:
Point
Domain:
A1
Sequence Context:
CAT > CGT
Variant Effect:
Missense
Location:
Exon 3
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.339T>A
p.(His113Gln) (Legacy AA No.94)
Variant Type:
Point
Domain:
A1
Sequence Context:
CAT > CAA
Variant Effect:
Missense
Location:
Exon 3
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