EAHAD Factor VIII Variant Database
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Search Results: 6 unique variants retrieved


  c.820T>C
p.(Trp274Arg) (Legacy AA No.255)
Variant Type:
Point
Domain:
A1
Sequence Context:
TGG > CGG
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.821G>A
p.(Trp274*) (Legacy AA No.255)
Variant Type:
Point
Domain:
A1
Sequence Context:
TGG > TAG
Variant Effect:
Nonsense
Location:
Exon 7
No of bases:
No. of cases reported:
5
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 7
Individual Case Information : Show

  c.821G>C
p.(Trp274Ser) (Legacy AA No.255)
Variant Type:
Point
Domain:
A1
Sequence Context:
TGG > TCG
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.822G>A
p.(Trp274*) (Legacy AA No.255)
Variant Type:
Point
Domain:
A1
Sequence Context:
TGG > TGA
Variant Effect:
Nonsense
Location:
Exon 7
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 7
Individual Case Information : Show

  c.822G>T
p.(Trp274Cys) (Legacy AA No.255)
Variant Type:
Point
Domain:
A1
Sequence Context:
TGG > TGT
Variant Effect:
Missense
Location:
Exon 7
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.822G>C
p.(Trp274Cys) (Legacy AA No.255)
Variant Type:
Point
Domain:
A1
Sequence Context:
TGG > TGC
Variant Effect:
Missense
Location:
Exon 7
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