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


  c.6697G>T
p.(Gly2233Trp) (Legacy AA No.2214)
Variant Type:
Point
Domain:
C2
Sequence Context:
GGG > TGG
Variant Effect:
Missense
Location:
Exon 24
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show