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


  c.1237G>C
p.(Asp413His) (Legacy AA No.394)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAC > CAC
Variant Effect:
Missense
Location:
Exon 8
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.1237G>T
p.(Asp413Tyr) (Legacy AA No.394)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAC > TAC
Variant Effect:
Missense
Location:
Exon 8
No of bases:
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