CNGB3 C234W - GET-Evidence

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

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Curation:
Currentness:

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CNGB3 C234W

(CNGB3 Cys234Trp)


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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

  • C @ chr8:87679303: 88.0% (9465/10758) in EVS
  • C @ chr8:87748418: 96.0% (119/124) in GET-Evidence
  • Frequency shown in summary reports: 88.0% (9465/10758)

Publications
 

Genomes
 

NA12878

 

NA18517

 

NA18555

 

NA18956

 

Added in this revision:

NA19129

 

snp-1

 

snp-18

 

snp-2

 

Other external references
 

    GeneTests
  • GeneTests records for the CNGB3 gene
    Stargardt Disease, Autosomal Recessive
    Achromatopsia
    Achromatopsia 3
    CNGB3-Related Stargardt Disease 1
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CNGB3
    Web search results (28 hits -- see all)
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k₧kƒkákíkókúkñkÑkªkºk¿kk¬k½k ... 0_-;_-"ú"* "-"_-;_-@0_-;\-* #,##0_-;_-* "-"_-;8_-"ú"* #,##0.00_-;\-"ú" ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • AceView: Gene:CNGB3, 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=CNGB3

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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