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  Search Results: 5 unique variants retrieved



  c.1234T>C
p.(Trp412Arg) (Legacy AA No.393)
Variant Type:
Point
Domain:
A2
Sequence Context:
TGG > CGG
Variant Effect:
Missense
Location:
Exon 8
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.1234T>G
p.(Trp412Gly) (Legacy AA No.393)
Variant Type:
Point
Domain:
A2
Sequence Context:
TGG > GGG
Variant Effect:
Missense
Location:
Exon 8
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.1235G>A
p.(Trp412*) (Legacy AA No.393)
Variant Type:
Point
Domain:
A2
Sequence Context:
TGG > TAG
Variant Effect:
Nonsense
Location:
Exon 8
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 8

Individual Case Information : Show


  c.1236G>A
p.(Trp412*) (Legacy AA No.393)
Variant Type:
Point
Domain:
A2
Sequence Context:
TGG > TGA
Variant Effect:
Nonsense
Location:
Exon 8
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 8

Individual Case Information : Show


  c. 1236G>A
p.(Trp412*) (Legacy AA No.393)
Variant Type:
Point
Domain:
A2
Sequence Context:
TGG > TGA
Variant Effect:
Nonsense
Location:
Exon 8
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 8

Individual Case Information : Show