CHRND P307S - 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:

CHRND P307S

(CHRND Pro307Ser)


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
 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het T @ chr2:233396160

 

Other external references
 

    GeneTests
  • GeneTests records for the CHRND gene
    CHRND-Related Congenital Myasthenic Syndrome
    CHRND-Related Multiple Pterygium Syndrome, Lethal Type
    Congenital Myasthenic Syndromes
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CHRND

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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