SCN4A V781I - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

SCN4A V781I

(SCN4A Val781Ile)


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
 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom T @ chr17:62034557

 

Other external references
 

    dbSNP
  • rs62070884
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    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 = –4
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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