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


  c.1315G>T
p.(Gly439Cys) (Legacy AA No.420)
Variant Type:
Point
Domain:
A2
Sequence Context:
GGT > TGT
Variant Effect:
Missense
Location:
Exon 9
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.1315G>A
p.(Gly439Ser) (Legacy AA No.420)
Variant Type:
Point
Domain:
A2
Sequence Context:
GGT > AGT
Variant Effect:
Missense
Location:
Exon 9
No of bases:
1
No. of cases reported:
7
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.1316G>C
p.(Gly439Ala) (Legacy AA No.420)
Variant Type:
Point
Domain:
A2
Sequence Context:
GGT > GCT
Variant Effect:
Missense
Location:
Exon 9
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.1316G>A
p.(Gly439Asp) (Legacy AA No.420)
Variant Type:
Point
Domain:
A2
Sequence Context:
GGT > GAT
Variant Effect:
Missense
Location:
Exon 9
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.1316G>T
p.(Gly439Val) (Legacy AA No.420)
Variant Type:
Point
Domain:
A2
Sequence Context:
GGT > GTT
Variant Effect:
Missense
Location:
Exon 9
No of bases:
1
No. of cases reported:
28
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show