SCN4A M135L - 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:

SCN4A M135L

(SCN4A Met135Leu)


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
 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het G @ chr17:62049575

 

Other external references
 

    GeneTests
  • GeneTests records for the SCN4A gene
    Congenital Myasthenic Syndromes
    Hypokalemic Periodic Paralysis
    Hyperkalemic Periodic Paralysis Type 1
    Hypokalemic Periodic Paralysis Type 2
    Myotonia, Potassium-Aggravated
    Paramyotonia Congenita
    SCN4A-Related Congenital Myasthenic Syndrome
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SCN4A

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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