AGL

amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase

Summary

This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Known Variants2,037 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5633895741:100,315,832C/T—uncertain significance
rs5482432051:100,315,906C/G—uncertain significance
rs9820378041:100,315,936C/T—uncertain significance
rs9378441681:100,315,945A/G—uncertain significance
rs16488541481:100,315,958A/G—uncertain significance
rs8884989741:100,315,964C/G—likely benign
rs14133595901:100,315,972G/C—uncertain significance
rs10575233561:100,315,982G/C—likely benign
rs23071301:100,316,589G/A—benign
rs15531814001:100,316,601G/C—likely pathogenic
rs12189158391:100,316,602G/A—uncertain significance
rs25244063101:100,316,604A/G—likely benign
rs7524374461:100,316,606A/G—uncertain significance
rs12579970771:100,316,609G/A—uncertain significance
rs21010534491:100,316,610T/C—likely benign
rs1139941261:100,316,614C/Tstop gainedpathogenic
rs14692512001:100,316,616G/A—likely benign
rs10575168701:100,316,620C/Tstop gainedpathogenic
rs12633965781:100,316,623A/G—uncertain significance
rs7461375551:100,316,628A/T—uncertain significance
rs1382030391:100,316,637C/T—likely benign
rs7494110871:100,316,638G/A—uncertain significance
rs25244069201:100,316,648A/G—uncertain significance
rs9978818901:100,316,649A/G—likely benign
rs21010535631:100,316,650C/T—likely benign
rs25244069781:100,316,652G/A—likely benign
rs7692383341:100,316,658G/C—uncertain significance
rs7622043511:100,316,662C/T—uncertain significance
rs16489159151:100,316,664C/G—likely benign
rs13425477341:100,316,666T/A—uncertain significance
rs15712061971:100,316,667C/T—likely benign
rs7729052911:100,316,669G/C—uncertain significance
rs7532435281:100,316,673T/G—likely benign
rs7815928031:100,316,674G/C—uncertain significance
rs1431107591:100,316,676A/G—likely benign
rs13547142141:100,316,681G/A—likely pathogenic
rs25244074511:100,316,682T/G—likely pathogenic
rs7650986861:100,316,684A/C—conflicting classifications of pathogenicity
rs16489184211:100,316,686T/C—uncertain significance
rs14154304211:100,316,687A/G—likely benign
rs7526334081:100,316,688G/T—likely benign
rs25244075821:100,316,691A/C—likely benign
rs25244076051:100,316,694T/G—likely benign
rs25244076371:100,316,697T/C—likely benign
rs7774809761:100,316,698T/C—likely benign
rs25244076771:100,316,700G/C—likely benign
rs6638481:100,316,765C/T—benign
rs1409143801:100,316,956T/C—likely benign
rs1465477951:100,318,034T/A—likely benign
rs12368408201:100,318,222G/A—likely benign
rs7589776321:100,318,224G/A—likely benign
rs15531816051:100,318,227T/C—likely benign
rs1450496341:100,318,245G/T—likely benign
rs1462910891:100,326,673A/G—likely benign
rs1485061681:100,326,706G/C—likely benign
rs412857361:100,326,966C/G—likely benign
rs2009984071:100,327,025A/G—likely benign
rs23071291:100,327,026C/T—benign
rs7674764721:100,327,030G/T—likely benign
rs7552903091:100,327,042A/G—likely benign
rs25244907701:100,327,044G/A—likely benign
rs10392162301:100,327,046G/A—likely benign
rs25244908401:100,327,048T/G—likely benign
rs25244909401:100,327,057A/G—likely pathogenic
rs7527711031:100,327,059G/A—uncertain significance
rs7585143101:100,327,060G/A—likely benign
rs7682782831:100,327,063T/C—likely benign
rs9323864851:100,327,064G/A—uncertain significance
rs21010844421:100,327,065A/G—uncertain significance
rs14857097191:100,327,066G/A—likely benign
rs7476159781:100,327,067C/T—likely benign
rs7575422711:100,327,069A/G—likely benign
rs7862044891:100,327,070C/Tstop gainedpathogenic
rs7815800501:100,327,076C/Tstop gainedpathogenic
rs7462656681:100,327,077G/A—uncertain significance
rs21010845211:100,327,078A/T—likely benign
rs3703077061:100,327,079T/C—likely benign
rs10575165671:100,327,080T/Gstop gainedpathogenic
rs7469776671:100,327,082G/A—uncertain significance
rs3740647231:100,327,084C/T—likely benign
rs7741446311:100,327,087A/G—likely benign
rs352787791:100,327,088A/T—uncertain significance
rs15577465211:100,327,089C/G—uncertain significance
rs9985193831:100,327,093A/G—likely benign
rs7719613771:100,327,094C/Tstop gainedpathogenic
rs15531831781:100,327,097G/T—likely pathogenic
rs14680757701:100,327,098G/A—uncertain significance
rs7605688541:100,327,105A/G—likely benign
rs7529644061:100,327,111C/T—likely benign
rs7629356111:100,327,112G/A—uncertain significance
rs16500396031:100,327,117T/C—likely benign
rs7519823921:100,327,121A/G—uncertain significance
rs3675913471:100,327,127C/T—uncertain significance
rs12630173471:100,327,129A/G—likely benign
rs7816833171:100,327,136G/A—uncertain significance
rs7564765621:100,327,145T/C—uncertain significance
rs7796774531:100,327,150T/C—likely benign
rs21010848411:100,327,153A/G—likely benign
rs1462347381:100,327,162C/G—uncertain significance
rs7785246711:100,327,163C/T—uncertain significance

Showing 100 of 2,037 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.