MYOT S60C - GET-Evidence

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

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Curation:
Currentness:

(See the latest version)

MYOT S60C

(MYOT Ser60Cys)


You are viewing an old version of this page that was saved on February 22, 2017 at 9:44pm by Madeleine Ball.

Added in this revision:

Short summary

 

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

Impact

Insufficiently evaluated not reviewed

(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
 

    GeneTests
  • GeneTests records for the MYOT gene
    Myofibrillar Myopathy
    Limb-Girdle Muscular Dystrophies, Autosomal Dominant
    LGMD1A
    Myotilinopathy
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MYOT

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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