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


  c.6994T>C
p.(Trp2332Arg) (Legacy AA No.2313)
Variant Type:
Point
Domain:
C2
Sequence Context:
TGG > CGG
Variant Effect:
Missense
Location:
Exon 26
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.6994T>G
p.(Trp2332Gly) (Legacy AA No.2313)
Variant Type:
Point
Domain:
C2
Sequence Context:
TGG > GGG
Variant Effect:
Missense
Location:
Exon 26
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.6995G>A
p.(Trp2332*) (Legacy AA No.2313)
Variant Type:
Point
Domain:
C2
Sequence Context:
TGG > TAG
Variant Effect:
Nonsense
Location:
Exon 26
No of bases:
1
No. of cases reported:
6
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 26
Individual Case Information : Show

  c.6995G>C
p.(Trp2332Ser) (Legacy AA No.2313)
Variant Type:
Point
Domain:
C2
Sequence Context:
TGG > TCG
Variant Effect:
Missense
Location:
Exon 26
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.6996G>A
p.(Trp2332*) (Legacy AA No.2313)
Variant Type:
Point
Domain:
C2
Sequence Context:
TGG > TGA
Variant Effect:
Nonsense
Location:
Exon 26
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 26
Individual Case Information : Show

  c.6996G>C
p.(Trp2332Cys) (Legacy AA No.2313)
Variant Type:
Point
Domain:
C2
Sequence Context:
TGG > TGC
Variant Effect:
Missense
Location:
Exon 26
No of bases:
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