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  Search Results: 4 unique variants retrieved



  c.6988C>T
p.(Gln2330*) (Legacy AA No.2311)
Variant Type:
Point
Domain:
C2
Sequence Context:
CAG > TAG
Variant Effect:
Nonsense
Location:
Exon 26
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 26

Individual Case Information : Show


  c.6988delC
p.(Gln2330Argfs*9) (Legacy AA No.2311)
Variant Type:
Deletion
Domain:
C2
Sequence Context:
Variant Effect:
Frameshift
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 (Deletion | Frameshift) of mutation at Exon 26

Individual Case Information : Show


  c.6988_6989delCA
p.(Gln2330Glufs*54) (Legacy AA No.2311)
Variant Type:
Deletion
Domain:
C2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 26
No of bases:
2
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 26

Individual Case Information : Show


  c.6989A>C
p.(Gln2330Pro) (Legacy AA No.2311)
Variant Type:
Point
Domain:
C2
Sequence Context:
CAG > CCG
Variant Effect:
Missense
Location:
Exon 26
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