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


  c.838G>C
p.(Gly280Arg) (Legacy AA No.261)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGC > CGC
Variant Effect:
Missense
Location:
Exon 7
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.839G>A
p.(Gly280Asp) (Legacy AA No.261)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGC > GAC
Variant Effect:
Missense
Location:
Exon 7
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.839G>T
p.(Gly280Val) (Legacy AA No.261)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGC > GTC
Variant Effect:
Missense
Location:
Exon 7
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