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  Search Results: 7 unique variants retrieved



  c.5953C>T
p.(Arg1985*) (Legacy AA No.1966)
Variant Type:
Point
Domain:
A3
Sequence Context:
CGA > TGA
Variant Effect:
Nonsense
Location:
Exon 18
No of bases:
1
No. of cases reported:
46
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 18

Individual Case Information : Show


  c.5953delC
p.(Arg1985Glufs*45) (Legacy AA No.1966)
Variant Type:
Deletion
Domain:
A3
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 18
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 (Deletion | Frameshift) of mutation at Exon 18

Individual Case Information : Show


  c.5953C>G
p.(Arg1985Gly) (Legacy AA No.1966)
Variant Type:
Point
Domain:
A3
Sequence Context:
CGA > GGA
Variant Effect:
Missense
Location:
Exon 18
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.5954G>A
p.(Arg1985Gln) (Legacy AA No.1966)
Variant Type:
Point
Domain:
A3
Sequence Context:
CGA > CAA
Variant Effect:
Missense
Location:
Exon 18
No of bases:
1
No. of cases reported:
89
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.5954delG
p.(Arg1985Glnfs*45) (Legacy AA No.1966)
Variant Type:
Deletion
Domain:
A3
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 18
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 18

Individual Case Information : Show


  c.5954_5985delGAAA..GTAC
p.(Arg1985Glnfs*8) (Legacy AA No.1966)
Variant Type:
Deletion
Domain:
A3
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 18
No of bases:
32
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 18

Individual Case Information : Show


  c.5954G>C
p.(Arg1985Pro) (Legacy AA No.1966)
Variant Type:
Point
Domain:
A3
Sequence Context:
CGA > CCA
Variant Effect:
Missense
Location:
Exon 18
No of bases:
1
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