ATP1A2 R65W - 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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(ATP1A2 Arg65Trp)

You are viewing an old version of this page that was saved on February 4, 2014 at 12:03pm by Madeleine Ball.

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • T @ chr1:160093018: 0.0% (2/10758) in EVS
  • Frequency shown in summary reports: 0.0% (2/10758)


Added in this revision:

Tonelli A, Gallanti A, Bersano A, Cardin V, Ballabio E, Airoldi G, Redaelli F, Candelise L, Bresolin N, Bassi MT. Amino acid changes in the amino terminus of the Na,K-adenosine triphosphatase alpha-2 subunit associated to familial and sporadic hemiplegic migraine. Clin Genet. 2007 Dec;72(6):517-23. Epub 2007 Sep 18. PubMed PMID: 17877748.



Other external references

  • Score: 0.863 (probably damaging)

Other in silico analyses

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 6

Edit history

Gene search

"GENE" or "GENE A123C":

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