USP29 D790E - 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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USP29 D790E

(USP29 Asp790Glu)

Short summary


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


Insufficiently evaluated not reviewed

(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

  • A @ chr19:57642413: 0.5% (52/10758) in EVS
  • Frequency shown in summary reports: 0.5% (52/10758)



Other external references

  • Score: 0.964 (probably damaging)
    Web search results (1 hit -- see all)
  • USP29 Gene - GeneCards | UBP29 Protein | UBP29 Antibody
    USP29 Gene in genomic location: bands according to Ensembl, locations ... for USP29 gene (According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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