UNC45B V60I - GET-Evidence

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

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Curation:
Currentness:

(See the latest version)

UNC45B V60I

(UNC45B Val60Ile)


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Short summary

 

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

Impact

Insufficiently evaluated not reviewed

(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

  • 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)

Publications
 

Genomes
 

Added in this revision:

snp-2

 

Other external references
 

    PolyPhen-2
  • 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 ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=UNC45B
  • 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 ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=CMYA4
  • 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: ...
    www.uniprot.org/uniprot/Q8IWX7
  • 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. ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q8IWX7

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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