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


  c.1594T>C
p.(Trp532Arg) (Legacy AA No.513)
Variant Type:
Point
Domain:
A2
Sequence Context:
TGG > CGG
Variant Effect:
Missense
Location:
Exon 11
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.1594T>G
p.(Trp532Gly) (Legacy AA No.513)
Variant Type:
Point
Domain:
A2
Sequence Context:
TGG > GGG
Variant Effect:
Missense
Location:
Exon 11
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.1595G>A
p.(Trp532*) (Legacy AA No.513)
Variant Type:
Point
Domain:
A2
Sequence Context:
TGG > TAG
Variant Effect:
Nonsense
Location:
Exon 11
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 11
Individual Case Information : Show

  c.1596G>A
p.(Trp532*) (Legacy AA No.513)
Variant Type:
Point
Domain:
A2
Sequence Context:
TGG > TGA
Variant Effect:
Nonsense
Location:
Exon 11
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 11
Individual Case Information : Show