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


  c.6715A>G
p.(Arg2239Gly) (Legacy AA No.2220)
Variant Type:
Point
Domain:
C2
Sequence Context:
AGA > GGA
Variant Effect:
Missense
Location:
Exon 24
No of bases:
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show