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  Search Results: 5 unique variants retrieved



  c.5506T>C
p.(Trp1836Arg) (Legacy AA No.1817)
Variant Type:
Point
Domain:
A3
Sequence Context:
TGG > CGG
Variant Effect:
Missense
Location:
Exon 16
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.5506delT
p.(Trp1836Glyfs*35) (Legacy AA No.1817)
Variant Type:
Deletion
Domain:
A3
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 16
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 (Deletion | Frameshift) of mutation at Exon 16

Individual Case Information : Show


  c.5507G>A
p.(Trp1836*) (Legacy AA No.1817)
Variant Type:
Point
Domain:
A3
Sequence Context:
TGG > TAG
Variant Effect:
Nonsense
Location:
Exon 16
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 16

Individual Case Information : Show


  c.5508G>A
p.(Trp1836*) (Legacy AA No.1817)
Variant Type:
Point
Domain:
A3
Sequence Context:
TGG > TGA
Variant Effect:
Nonsense
Location:
Exon 16
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 16

Individual Case Information : Show


  c.5508_5521del
p.(Trp1836*) (Legacy AA No.1817)
Variant Type:
Deletion
Domain:
A3
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 16
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 (Deletion | Frameshift) of mutation at Exon 16

Individual Case Information : Show