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


  c.853G>A
p.(Val285Met) (Legacy AA No.266)
Variant Type:
Point
Domain:
A1
Sequence Context:
GTG > ATG
Variant Effect:
Missense
Location:
Exon 7
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.854T>C
p.(Val285Ala) (Legacy AA No.266)
Variant Type:
Point
Domain:
A1
Sequence Context:
GTG > GCG
Variant Effect:
Missense
Location:
Exon 7
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.854T>G
p.(Val285Gly) (Legacy AA No.266)
Variant Type:
Point
Domain:
A1
Sequence Context:
GTG > GGG
Variant Effect:
Missense
Location:
Exon 7
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show

  c.855T>G
p.(Val285Gly) (Legacy AA No.266)
Variant Type:
Point
Domain:
A1
Sequence Context:
GTG > GGG
Variant Effect:
Missense
Location:
Exon 7
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