CNGB3 E755G - GET-Evidence

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

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(CNGB3 Glu755Gly)

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

  • C @ chr8:87588198: 8.3% (890/10758) in EVS
  • C @ chr8:87657313: 9.4% (12/128) in GET-Evidence
  • Frequency shown in summary reports: 8.3% (890/10758)




hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het C @ chr8:87588198



hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr8:87588198



huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr8:87588198




GS07357 - var-GS07357-1100-36-ASM
het C @ chr8:87657314


GS18558 - var-GS18558-1100-36-ASM
het C @ chr8:87657314


GS18956 - var-GS18956-1100-36-ASM
het C @ chr8:87657314


GS19129 - var-GS19129-1100-36-ASM
het C @ chr8:87657314


GS19648 - var-GS19648-1100-36-ASM
het C @ chr8:87657314


GS19700 - var-GS19700-1100-36-ASM
het C @ chr8:87657314


Other external references

  • rs3735972
  • GeneTests records for the CNGB3 gene
    Stargardt Disease, Autosomal Recessive
    Achromatopsia 3
    CNGB3-Related Stargardt Disease 1
  • Score: 0.11 (benign)
    Web search results (10 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 ... 2264 exchanging glycine for glutamic acid at amino acid position 755 (E755G) ...

Other in silico analyses

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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