UNC45B V60I - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

UNC45B V60I

(UNC45B Val60Ile)


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
 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr17:33476001

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het A @ chr17:33476001

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr17:33476001

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr17:33476001

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr17:30500114

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr17:30500114

 

GS19649 - var-GS19649-1100-36-ASM
hom A @ chr17:30500114

 

GS19735 - var-GS19735-1100-36-ASM
het A @ chr17:30500114

 

Other external references
 

    dbSNP
  • rs16970659
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    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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