SCN1A T303S - 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:

SCN1A T303S

(SCN1A Thr303Ser)


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 A @ chr2:166908286

 

Other external references
 

    GeneTests
  • GeneTests records for the SCN1A gene
    Familial Hemiplegic Migraine
    Familial Hemiplegic Migraine 3
    SCN1A-Related Intractable Infantile Partial Seizures
    SCN1A-Related Seizure Disorders
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SCN1A

Other in silico analyses
 

  • NBLOSUM100 score = –2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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