ATP7A R980X - 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:

ATP7A R980X

(ATP7A Arg980Stop)


Short summary

 

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

Impact

Insufficiently evaluated pathogenic

(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
 

    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. ...
    www.genome.jp/dbget-bin/www_bget?mim:300011
  • 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 ...
    www.fonama.org/i_omim/3/i_300011.html
  • 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. ...
    www.fonama.org/i_omim/3/i_300011.htm

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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