EAHAD Factor VIII Variant Database
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Search Results: 2 unique variants retrieved


  c.5665C>T
p.(Gln1889*) (Legacy AA No.1870)
Variant Type:
Point
Domain:
A3
Sequence Context:
CAA > TAA
Variant Effect:
Nonsense
Location:
Exon 17
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 (Point | Nonsense) of mutation at Exon 17
Individual Case Information : Show

  c.5667A>T
p.(Gln1889His) (Legacy AA No.1870)
Variant Type:
Point
Domain:
A3
Sequence Context:
CAA > CAT
Variant Effect:
Missense
Location:
Exon 17
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