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


  c.460A>G
p.(Thr154Ala) (Legacy AA No.135)
Variant Type:
Point
Domain:
A1
Sequence Context:
ACA > GCA
Variant Effect:
Missense
Location:
Exon 4
No of bases:
1
No. of cases reported:
6
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.460A>C
p.(Thr154Pro) (Legacy AA No.135)
Variant Type:
Point
Domain:
A1
Sequence Context:
ACA > CCA
Variant Effect:
Missense
Location:
Exon 4
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show