SCN5A P627L - GET-Evidence

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

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Curation:
Currentness:

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SCN5A P627L

(SCN5A Pro627Leu)


You are viewing an old version of this page that was saved on February 23, 2017 at 6:42am 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 SCN5A gene
    Dilated Cardiomyopathy
    Brugada Syndrome
    Long QT Syndrome 3
    LQT3-Related Romano Ward Syndrome
    Progressive Cardiac Conduction Disease
    Romano-Ward Syndrome
    SCN5A-Associated Dilated Cardiomyopathy
    SCN5A-Related Dilated Cardiomyopathy
    SCN5A-Related Disorders
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SCN5A

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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