EAHAD Factor VIII Variant Database
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Search Results: 5 unique variants retrieved


  c.6265T>C
p.(Trp2089Arg) (Legacy AA No.2070)
Variant Type:
Point
Domain:
C1
Sequence Context:
TGG > CGG
Variant Effect:
Missense
Location:
Exon 21
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.6266G>A
p.(Trp2089*) (Legacy AA No.2070)
Variant Type:
Point
Domain:
C1
Sequence Context:
TGG > TAG
Variant Effect:
Nonsense
Location:
Exon 21
No of bases:
1
No. of cases reported:
4
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.6266G>T
p.(Trp2089Leu) (Legacy AA No.2070)
Variant Type:
Point
Domain:
C1
Sequence Context:
TGG > TTG
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.6267G>A
p.(Trp2089*) (Legacy AA No.2070)
Variant Type:
Point
Domain:
C1
Sequence Context:
TGG > TGA
Variant Effect:
Nonsense
Location:
Exon 21
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 21
Individual Case Information : Show

  c.6267G>T
p.(Trp2089Cys) (Legacy AA No.2070)
Variant Type:
Point
Domain:
C1
Sequence Context:
TGG > TGT
Variant Effect:
Missense
Location:
Exon 21
No of bases:
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show