EAHAD Factor VIII Variant Database
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Search Results: 5 unique variants retrieved


  c.1648C>T
p.(Arg550Cys) (Legacy AA No.531)
Variant Type:
Point
Domain:
A2
Sequence Context:
CGC > TGC
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
89
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.1648C>G
p.(Arg550Gly) (Legacy AA No.531)
Variant Type:
Point
Domain:
A2
Sequence Context:
CGC > GGC
Variant Effect:
Missense
Location:
Exon 11
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.1649G>A
p.(Arg550His) (Legacy AA No.531)
Variant Type:
Point
Domain:
A2
Sequence Context:
CGC > CAC
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
64
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.1649G>T
p.(Arg550Leu) (Legacy AA No.531)
Variant Type:
Point
Domain:
A2
Sequence Context:
CGC > CTC
Variant Effect:
Missense
Location:
Exon 11
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.1649G>C
p.(Arg550Pro) (Legacy AA No.531)
Variant Type:
Point
Domain:
A2
Sequence Context:
CGC > CCC
Variant Effect:
Missense
Location:
Exon 11
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show