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


  c.64A>G
p.(Arg22Gly) (Legacy AA No.3)
Variant Type:
Point
Domain:
A1
Sequence Context:
AGA > GGA
Variant Effect:
Missense
Location:
Exon 1
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.65G>T
p.(Arg22Ile) (Legacy AA No.3)
Variant Type:
Point
Domain:
A1
Sequence Context:
AGA > ATA
Variant Effect:
Missense
Location:
Exon 1
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.65G>C
p.(Arg22Thr) (Legacy AA No.3)
Variant Type:
Point
Domain:
A1
Sequence Context:
AGA > ACA
Variant Effect:
Missense
Location:
Exon 1
No of bases:
1
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