EAHAD Factor VIII Variant Database
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Search Results: 4 unique variants retrieved


  c.5605G>C
p.(Gly1869Arg) (Legacy AA No.1850)
Variant Type:
Point
Domain:
A3
Sequence Context:
GGC > CGC
Variant Effect:
Missense
Location:
Exon 17
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.5605G>A
p.(Gly1869Ser) (Legacy AA No.1850)
Variant Type:
Point
Domain:
A3
Sequence Context:
GGC > AGC
Variant Effect:
Missense
Location:
Exon 17
No of bases:
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.5606G>A
p.(Gly1869Asp) (Legacy AA No.1850)
Variant Type:
Point
Domain:
A3
Sequence Context:
GGC > GAC
Variant Effect:
Missense
Location:
Exon 17
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.5606G>T
p.(Gly1869Val) (Legacy AA No.1850)
Variant Type:
Point
Domain:
A3
Sequence Context:
GGC > GTC
Variant Effect:
Missense
Location:
Exon 17
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show