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


  c.1810T>C
p.(Trp604Arg) (Legacy AA No.585)
Variant Type:
Point
Domain:
A2
Sequence Context:
TGG > CGG
Variant Effect:
Missense
Location:
Exon 12
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.1811G>A
p.(Trp604*) (Legacy AA No.585)
Variant Type:
Point
Domain:
A2
Sequence Context:
Variant Effect:
Nonsense
Location:
Exon 12
No of bases:
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 12
Individual Case Information : Show

  c.1812G>A
p.(Trp604*) (Legacy AA No.585)
Variant Type:
Point
Domain:
A2
Sequence Context:
TGG > TGA
Variant Effect:
Nonsense
Location:
Exon 12
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 12
Individual Case Information : Show

  c.1812G>C
p.(Trp604Cys) (Legacy AA No.585)
Variant Type:
Point
Domain:
A2
Sequence Context:
TGG > TGC
Variant Effect:
Missense
Location:
Exon 12
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