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


  c.493C>T
p.(Pro165Ser) (Legacy AA No.146)
Variant Type:
Point
Domain:
A1
Sequence Context:
CCA > TCA
Variant Effect:
Missense
Location:
Exon 4
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.494C>T
p.(Pro165Leu) (Legacy AA No.146)
Variant Type:
Point
Domain:
A1
Sequence Context:
CCA > CTA
Variant Effect:
Missense
Location:
Exon 4
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show