CLCNKA Q260X - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

CLCNKA Q260X

(CLCNKA Gln260Stop)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    Web search results (10 hits -- see all)
  • Molecular analysis of digenic inheritance in Bartter syndrome ...
    The paternal allele had a nonsense mutation (Q260X) in CLCNKA and a splicing site mutation (IVS17+1 g>a) in ... deletion mutation (about 12 kbp) extending from CLCNKA to CLCNKB. ...
    jmg.bmj.com/content/45/3/182.abstract
  • Kaito, H (H)
    The paternal allele had a nonsense mutation (Q260X) in CLCNKA and a splicing site mutation (IVS17+1 g>a) in ... had a nonsense mutation (Q260X) in CLCNKA and a splicing site ...
    lib.bioinfo.pl/auid:759828
  • Nozu, K (K)
    The paternal allele had a nonsense mutation (Q260X) in CLCNKA and a splicing site mutation (IVS17+1 g>a) in ... had a nonsense mutation (Q260X) in CLCNKA and a splicing site ...
    lib.bioinfo.pl/auid:225428

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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