ATP7A R980X - GET-Evidence

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

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(ATP7A Arg980Stop)

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

  • None available.



Other external references

    Web search results (3 hits -- see all)
  • OMIM: 300011
    Atp7a expression was widespread throughout development whereas Atp7b expression was more ... transition in the ATP7A gene, resulting in an arg980-to-ter (R980X) substitution. ...
  • OMIM 300011 - ATPasi, Polipeptide alfa trasportatore del Cu(2 ...
    Atp7a espressiUna era diffusa traverso sviluppo mentre Atp7b espressiUna era più delimited. ... C>T nel ATP7A gene, provocante una arg980-to-ter (R980X) sostituzione. Il bambino ...
  • OMIM
    Atp7a espressione era diffusa attraverso sviluppo mentre Atp7b espressione era più delimited. ... T transizione nel ATP7A gene, causante in un arg980-to-ter (R980X) sostituzione. ...

Other in silico analyses

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 6

Edit history

Gene search

"GENE" or "GENE A123C":

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