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


  c.1933C>T
p.(Gln645*) (Legacy AA No.626)
Variant Type:
Point
Domain:
A2
Sequence Context:
CAG > TAG
Variant Effect:
Nonsense
Location:
Exon 13
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 13
Individual Case Information : Show

  c.1934A>C
p.(Gln645Pro) (Legacy AA No.626)
Variant Type:
Point
Domain:
A2
Sequence Context:
CAG > CCG
Variant Effect:
Missense
Location:
Exon 13
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show