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  Search Results: 4 unique variants retrieved



  c.2118dupA
p.(Trp707Metfs*23) (Legacy AA No.688)
Variant Type:
Duplication
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 14
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 (Duplication | Frameshift) of mutation at Exon 14

Individual Case Information : Show


  c.2119T>C
p.(Trp707Arg) (Legacy AA No.688)
Variant Type:
Point
Domain:
A2
Sequence Context:
TGG > CGG
Variant Effect:
Missense
Location:
Exon 14
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.2120G>A
p.(Trp707*) (Legacy AA No.688)
Variant Type:
Point
Domain:
A2
Sequence Context:
TGG > TAG
Variant Effect:
Nonsense
Location:
Exon 14
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 14

Individual Case Information : Show


  c.2121G>A
p.(Trp707*) (Legacy AA No.688)
Variant Type:
Point
Domain:
A2
Sequence Context:
TGG > TGA
Variant Effect:
Nonsense
Location:
Exon 14
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 14

Individual Case Information : Show