EAHAD Factor VIII Variant Database
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Search Results: 1 unique variant retrieved.


  c.1195A>G
p.(Lys399Glu) (Legacy AA No.380)
Variant Type:
Point
Domain:
A2
Sequence Context:
AAA > GAA
Variant Effect:
Missense
Location:
Exon 8
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show