EAHAD Factor VIII Variant Database
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Search Results: 3 unique variants retrieved


  c.409A>G
p.(Thr137Ala) (Legacy AA No.118)
Variant Type:
Point
Domain:
A1
Sequence Context:
ACC > GCC
Variant Effect:
Missense
Location:
Exon 4
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.409A>C
p.(Thr137Pro) (Legacy AA No.118)
Variant Type:
Point
Domain:
A1
Sequence Context:
ACC > CCC
Variant Effect:
Missense
Location:
Exon 4
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.410C>T
p.(Thr137Ile) (Legacy AA No.118)
Variant Type:
Point
Domain:
A1
Sequence Context:
ACC > ATC
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