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


  c.1423G>C
p.(Glu475Gln) (Legacy AA No.456)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAA > CAA
Variant Effect:
Missense
Location:
Exon 9
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.1423G>A
p.(Glu475Lys) (Legacy AA No.456)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAA > AAA
Variant Effect:
Missense
Location:
Exon 9
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show