EAHAD Factor VIII Variant Database
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Search Results: 2 unique variants retrieved


  c.5329C>T
p.(Leu1777Phe) (Legacy AA No.1758)
Variant Type:
Point
Domain:
A3
Sequence Context:
CTC > TTC
Variant Effect:
Missense
Location:
Exon 15
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.5330T>C
p.(Leu1777Pro) (Legacy AA No.1758)
Variant Type:
Point
Domain:
A3
Sequence Context:
CTC > CCC
Variant Effect:
Missense
Location:
Exon 15
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show