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


  c.5281T>C
p.(Ser1761Pro) (Legacy AA No.1742)
Variant Type:
Point
Domain:
A3
Sequence Context:
TCC > CCC
Variant Effect:
Missense
Location:
Exon 15
No of bases:
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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