EAHAD Factor VIII Variant Database
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Factor VIII Gene (F8) Variant Database  

F8
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Search Results: 1 unique variant retrieved.

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  c.6563G>A
p.(Cys2188Tyr) (Legacy AA No.2169)
Variant Type:
Point
Domain:
C1
Sequence Context:
TGT > TAT
Variant Effect:
Missense
Location:
Exon 23
No of bases:
1
No. of cases reported:
12
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show
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