CNGB3 T298P - GET-Evidence

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

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(CNGB3 Thr298Pro)

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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

  • G @ chr8:87666251: 64.3% (6911/10752) in EVS
  • G @ chr8:87735366: 60.2% (77/128) in GET-Evidence
  • Frequency shown in summary reports: 64.3% (6911/10752)







Added in this revision:



Other external references

  • GeneTests records for the CNGB3 gene
    Stargardt Disease, Autosomal Recessive
    Achromatopsia 3
    CNGB3-Related Stargardt Disease 1
  • Score: 0.007 (benign)
    Web search results (31 hits -- see all)
  • CNGB3
    ACHM3 region, the identification and cloning of the CNGB3 ... Segregation of CNGB3 mutations for available family members is indicated: +, wild-type ...
  • Mutations in the CNGB3 gene encoding the {beta}-subunit of ...
    Mutations in the CNGB3 gene encoding the ß-subunit of the cone ... substitution at amino acid position 298 (T298P) in comparison with the genomic BAC ...
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k₧kƒkákíkókúkñkÑkªkºk¿kk¬k½k ... 0_-;_-"ú"* "-"_-;_-@0_-;\-* #,##0_-;_-* "-"_-;8_-"ú"* #,##0.00_-;\-"ú" ...
  • Type III 98%
    ... kinase family Removed kinase gruop Effect Reference(s) for variant Reference(s) for phosphorylation site ... 15064763 CNGB3 Q9NQW8 T298P 297 VAR_018110 PKC (0.935) CDK (0.962) ...
  • Type III 97%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... Reference(s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R ...

Other in silico analyses

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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