UNC45B V60I - GET-Evidence

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

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(UNC45B Val60Ile)

You are viewing an old version of this page that was saved on December 27, 2009 at 4:07pm by Genome Importing Robot.

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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 @ chr17:33476001: 2.9% (307/10758) in EVS
  • A @ chr17:30500113: 5.5% (7/128) in GET-Evidence
  • Frequency shown in summary reports: 2.9% (307/10758)



Other external references

  • Score: 0 (benign)
    Web search results (5 hits -- see all)
  • UNC45B Gene - GeneCards | UN45B Protein | UN45B Antibody
    EntrezGene summary for UNC45B: UNC45B plays a role in myoblast fusion ... UNC45B Gene in genomic location: bands according to Ensembl, locations according ...
  • AceView: Gene:UNC45B, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
  • Protein unc-45 homolog B - Homo sapiens (Human)
    UNC45B. Synonyms: CMYA4, UNC45. Organism. Homo sapiens (Human) [Complete ... V I: dbSNP rs16970659. Ref.2. VAR_027506. Natural variant. 199. 1. A V: ...
  • UniProt: Q8IWX7
    AC Q8IWX7; Q495Q8; Q495Q9; DT 19-SEP-2006, integrated into UniProtKB/Swiss-Prot. ... GC17P030500; -. DR H-InvDB; HIX0013724; -. DR HGNC; HGNC:14304; UNC45B. ...

Other in silico analyses

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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