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

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Curation:

Currentness:

(See the latest version)

GBE1 R190G

(GBE1 Arg190Gly)

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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.)

unknown

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)

Publications

Genomes

Added in this revision:

Other external references

dbSNP

rs2229519
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

GeneTests

GeneTests records for the GBE1 gene
Adult Polyglucosan Body Disease
GBE1-Related Disorders
Glycogen Storage Disease Type IV
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GBE1

PolyPhen-2

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 ...
cardiogenomics.med.harvard.edu/.../GBE1_validated_SNPs.html
BMC Bioinformatics
Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge ... GBE1. 1,4-alpha-glucan branching enzyme. rs2305246. R190G. 35. ENSG00000104901. DKKL1. Dickkopf ...
www.biomedcentral.com/content/pdf/1471-2105-8-301.pdf
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 ...
biomedcentral.com/content/download/xml/1471-2105-8-301.xml
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
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 ...
cardiogenomics.med.harvard.edu/.../GBE1_validated_SNPs.html

Other in silico analyses

NBLOSUM100 score = 6
GET-Evidence autoscore = 3

Edit history

Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_B03 from PGP sample 14427241 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_F02 from PGP sample 40767107 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_D02 from PGP sample 27316983 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_F02 from PGP sample 95788191 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_B04 from PGP sample 88590671 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_B01 from PGP sample 86206034 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_F06 from PGP sample 64191565 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_F02 from PGP sample 70008981 view
Nov 29 2012 Genome Importing Robot added hu34D5B9 exome view
Mar 5 2012 Genome Importing Robot added hu232307 build 36 substitution variants view
Jul 8 2011 Han Luu edited variant summary view
Jun 23 2011 Genome Importing Robot removed James D. Watson view
Jun 22 2011 Genome Importing Robot removed Stephen Quake view
Jun 22 2011 Genome Importing Robot removed J. Craig Venter view
Jun 22 2011 Genome Importing Robot removed [NA19240] view
Jun 22 2011 Genome Importing Robot removed [snp-3] view
Jun 22 2011 Genome Importing Robot removed [snp-2] view
Jun 22 2011 Genome Importing Robot removed Seong-Jin Kim view
Jun 8 2011 Han Luu edited variant summary view
Mar 29 2011 Genome Importing Robot added var-GS21767-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19834-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19703-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19669-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19649-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19648-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19240-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19239-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19238-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18942-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18940-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18555-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18537-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18526-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18517-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18508-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS06994-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS10851-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS07357-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18502-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18504-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18505-1100-36-ASM view
Dec 8 2010 Genome Importing Robot removed Henry Louis Gates Jr. view
Dec 8 2010 Genome Importing Robot removed Henry Louis Gates Sr. view
Dec 6 2010 Genome Importing Robot added hu3215A7 build 36 substitution variants view
Dec 6 2010 Genome Importing Robot added hu728FFF build 36 substitution variants view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_H01_200_37 view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_G01_200_37 view
May 12 2010 Genome Importing Robot added Henry Louis Gates Jr. view
May 8 2010 Genome Importing Robot added CGI sample GS00253-DNA_A02_200_37 view
May 8 2010 Genome Importing Robot added [NA19240] view
Feb 26 2010 Genome Importing Robot added CGI sample GS00253-DNA_D01_200_37 view
Feb 17 2010 Genome Importing Robot added Henry Louis Gates Sr. view
Dec 27 2009 Genome Importing Robot added Stephen Quake view
Dec 27 2009 Genome Importing Robot added J. Craig Venter view
Dec 27 2009 Genome Importing Robot added [snp-3] view
Dec 27 2009 Genome Importing Robot added [snp-2] view
Dec 27 2009 Genome Importing Robot added James D. Watson view
Dec 27 2009 Genome Importing Robot added Seong-Jin Kim view
Dec 27 2009 Genome Importing Robot added variant view

GBE1 R190G - GET-Evidence