CNGB3 R203Q - 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:

CNGB3 R203Q

(CNGB3 Arg203Gln)


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

  • T @ chr8:87680282: 5.2% (559/10758) in EVS
  • T @ chr8:87749397: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 5.2% (559/10758)

Publications
 

Genomes
 

 

GS18508 - var-GS18508-1100-36-ASM
het T @ chr8:87749398

 

GS19238 - var-GS19238-1100-36-ASM
het T @ chr8:87749398

 

GS19240 - var-GS19240-1100-36-ASM
het T @ chr8:87749398

 

GS19703 - var-GS19703-1100-36-ASM
het T @ chr8:87749398

 

Other external references
 

    dbSNP
  • rs16916632
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    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
    PolyPhen-2
  • Score: 0.008 (benign)
    Web search results (1 hit -- see all)
  • Supplementary Table xls.1
    Administrator B**a***=***£***h*J*\I08*X*@*ì*"*******1* É*ÿ**Arial1* É*ÿ**Arial1 ... rs16916632*R203Q. rs16917089*V27A. rs16917454*TSCOT NM_033051 NP_149040*A366V*thymic ...
    icr.ac.uk/research/research_sections/.../2843.xls

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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