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


  c.6241T>C
p.(Trp2081Arg ) (Legacy AA No.2062)
Variant Type:
Point
Domain:
C1
Sequence Context:
TGG > CGG
Variant Effect:
Missense
Location:
Exon 21
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.6242G>C
p.(Trp2081Ser) (Legacy AA No.2062)
Variant Type:
Point
Domain:
C1
Sequence Context:
TGG > TCG
Variant Effect:
Missense
Location:
Exon 21
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.6243G>A
p.(Trp2081*) (Legacy AA No.2062)
Variant Type:
Point
Domain:
C1
Sequence Context:
TGG > TGA
Variant Effect:
Nonsense
Location:
Exon 21
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 21
Individual Case Information : Show

  c.6243G>C
p.(Trp2081Cys) (Legacy AA No.2062)
Variant Type:
Point
Domain:
C1
Sequence Context:
TGG > TGC
Variant Effect:
Missense
Location:
Exon 21
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