GBE1 R190G - 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!


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GBE1 R190G

(GBE1 Arg190Gly)

You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm by Genome Importing Robot.

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 @ chr3:81698130: 29.2% (2750/9410) in EVS
  • C @ chr3:81780819: 26.6% (34/128) in GET-Evidence
  • Frequency shown in summary reports: 29.2% (2750/9410)



hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr3:81698130


hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr3:81698130




huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr3:81698130


huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr3:81698130


GS06994 - var-GS06994-1100-36-ASM
het C @ chr3:81780820


GS07357 - var-GS07357-1100-36-ASM
het C @ chr3:81780820


GS10851 - var-GS10851-1100-36-ASM
het C @ chr3:81780820


GS18502 - var-GS18502-1100-36-ASM
het C @ chr3:81780820


GS18504 - var-GS18504-1100-36-ASM
het C @ chr3:81780820


GS18505 - var-GS18505-1100-36-ASM
het C @ chr3:81780820


GS18508 - var-GS18508-1100-36-ASM
het C @ chr3:81780820


GS18517 - var-GS18517-1100-36-ASM
het C @ chr3:81780820


GS18526 - var-GS18526-1100-36-ASM
het C @ chr3:81780820


GS18537 - var-GS18537-1100-36-ASM
het C @ chr3:81780820


Added in this revision:

GS18555 - var-GS18555-1100-36-ASM
het C @ chr3:81780820
















Other external references

  • rs2229519
  • GeneTests records for the GBE1 gene
    Adult Polyglucosan Body Disease
    GBE1-Related Disorders
    Glycogen Storage Disease Type IV
  • Score: 0.025 (benign)
    Web search results (15 hits -- see all)
  • SNPs Identified in GBE1
    R190G. A/G. G4369a15. 420. chr3:81640977. Silent. view. Y114Y. C/T. G4369a14. chr3:81641122 ... Candidate Gene List > GBE1 Main Page > SNPs Identified in GBE1 ...
  • BMC Bioinformatics
    Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge ... GBE1. 1,4-alpha-glucan branching enzyme. rs2305246. R190G. 35. ENSG00000104901. DKKL1. Dickkopf ...
  • Genome bioinformatic analysis of nonsynonymous SNPs
    Department of Biochemistry, University of Cambridge, 80 Tennis Court ... GBE1. 1,4-alpha-glucan branching enzyme. rs2305246. R190G. 35. ENSG00000104901. DKKL1. Dickkopf ...
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k₧kƒkákíkókúkñkÑkªkºk¿kk¬k½k ... 0_-;_-"ú"* "-"_-;_-@0_-;\-* #,##0_-;_-* "-"_-;8_-"ú"* #,##0.00_-;\-"ú" ...
  • SNPs Identified in GBE1
    R190G. A/G. G4369a9. 21. chr3:81731626. 5' UTR. view. G/A. Download a spreadsheet containing this ... Candidate Gene List > GBE1 Main Page > SNPs Identified in GBE1 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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