EXOSC3 Y225H - 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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(EXOSC3 Tyr225His)

You are viewing an old version of this page that was saved on May 19, 2010 at 6:11pm by Genome Importing Robot.

Added in this revision:

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

  • G @ chr9:37780831: 6.9% (747/10758) in EVS
  • G @ chr9:37770830: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 6.9% (747/10758)



Other external references

  • Score: 0.923 (probably damaging)
    Web search results (4 hits -- see all)
  • EXOSC3 Gene - GeneCards | EXOS3 Protein | EXOS3 Antibody
    EXOSC3 Gene in genomic location: bands according to Ensembl, locations according ... Abnova (EXOSC3) OriGene Purified Recombinant Human Protein: EXOSC3 ...
  • RCSB PDB : Biology and Chemistry Report for 2NN6 - Structure ...
    2NN6: Reconstitution, activities, and structure of the eukaryotic RNA exosome. ... exosc3, rrp40. Host Scientific Name. Escherichia coli. Host Genus. Escherichia. Host Strain ...
  • UniProt: Q9NQT5
    AC Q9NQT5; Q9Y3A8; DT 01-JUN-2001, integrated into UniProtKB/Swiss-Prot. ... CC composed of at least 11 proteins: EXOSC1/CSL4, EXOSC2/RRP4, CC EXOSC3/RRP40, ...

Other in silico analyses

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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