OPLAH

5-oxoprolinase, ATP-hydrolysing

Summary

The protein encoded by this gene acts as a homodimer, using ATP hydrolysis to catalyze the conversion of 5-oxo-L-proline to L-glutamate. Defects in this gene are a cause of 5-oxoprolinase deficiency (OPLAHD). [provided by RefSeq, Jun 2012]

Known Variants395 total

rsidPosition (GRCh37)AllelesClassClinVar
rs15547575858:145,106,233G/T—likely benign
rs2014820728:145,106,251A/G—likely benign
rs13820771168:145,106,263G/A—likely benign
rs25402328048:145,106,271G/A—uncertain significance
rs3722771858:145,106,272C/T—likely benign
rs2021009058:145,106,273T/A—likely benign
rs3718405268:145,106,274C/T—likely benign
rs7769330288:145,106,286G/A—likely benign
rs25402330528:145,106,307G/A—uncertain significance
rs15875486628:145,106,341A/G—likely benign
rs7823379698:145,106,349C/G—uncertain significance
rs15547576328:145,106,381C/G—likely benign
rs7818060678:145,106,385G/C—likely benign
rs7827655958:145,106,386G/A—likely benign
rs7818715688:145,106,388G/T—likely benign
rs5665928958:145,106,389G/C—likely benign
rs284334828:145,106,393C/G—benign
rs3747709098:145,106,622G/A—likely benign
rs7826276848:145,106,633G/A—likely benign
rs3731690208:145,106,695G/A—likely benign
rs25402358908:145,106,710G/A—uncertain significance
rs25402360088:145,106,740G/C—likely benign
rs12923447178:145,106,827G/C—pathogenic
rs617403398:145,106,868G/A—likely benign
rs9443694658:145,106,880G/A—uncertain significance
rs7824208148:145,106,881A/G—likely benign
rs25402368618:145,106,897G/A—likely benign
rs7820943038:145,106,921C/T—uncertain significance
rs9305656468:145,106,922G/A—uncertain significance
rs7818790728:145,106,923G/T—likely benign
rs21297434218:145,106,927C/G—uncertain significance
rs7825339258:145,106,931C/T—benign
rs25402374448:145,106,960G/A—uncertain significance
rs3765455218:145,106,983C/T—likely benign
rs1482918108:145,106,988G/A—benign
rs7823022898:145,107,055C/T—likely benign
rs14792375688:145,107,057G/A—likely benign
rs15875506728:145,107,089A/C—likely benign
rs7826531958:145,107,139C/A—likely pathogenic
rs14105399168:145,107,161C/T—likely benign
rs7822870468:145,107,171G/T—uncertain significance
rs7825587618:145,107,177G/A—uncertain significance
rs14263866458:145,107,181C/G—uncertain significance
rs14826641288:145,107,206C/T—likely benign
rs25402389968:145,107,210G/A—uncertain significance
rs15547578778:145,107,222A/G—uncertain significance
rs18354018258:145,107,239G/A—likely benign
rs5338512048:145,107,240C/T—likely benign
rs7820329388:145,107,343C/A—benign
rs25402397008:145,107,360C/T—uncertain significance
rs13477872278:145,107,377G/A—uncertain significance
rs1858368038:145,107,390C/Tmissense variantlikely benign
rs7818631478:145,107,401C/G—uncertain significance
rs7826613968:145,107,437G/A—likely benign
rs18354090838:145,107,448C/G—likely benign
rs7821251968:145,107,458A/G—uncertain significance
rs15547579498:145,107,470G/A—uncertain significance
rs7818317748:145,107,478C/G—likely benign
rs284289568:145,107,490C/T—benign
rs7825483848:145,107,491G/A—uncertain significance
rs7825595838:145,107,499G/A—likely benign
rs7821899818:145,107,513G/A—likely benign
rs5731745298:145,107,521C/A—likely benign
rs1917779838:145,107,705C/A—likely benign
rs7828059168:145,107,767C/G—uncertain significance
rs25402422488:145,107,773C/A—uncertain significance
rs7825192668:145,107,786G/A—uncertain significance
rs7823902808:145,107,789A/T—uncertain significance
rs111362538:145,107,795G/A—benign
rs25402424618:145,107,805T/C—likely pathogenic
rs5624174998:145,107,814C/T—likely benign
rs7820455328:145,107,817G/A—likely benign
rs3705579208:145,107,868A/G—benign
rs7823316828:145,107,888G/A—pathogenic
rs25402430078:145,107,905A/G—uncertain significance
rs7823677488:145,107,908C/T—uncertain significance
rs14713508138:145,107,909G/C—uncertain significance
rs2006200198:145,107,915G/A—likely benign
rs5490599138:145,107,923G/A—uncertain significance
rs18354261588:145,107,929T/G—uncertain significance
rs7820512288:145,107,931G/C—uncertain significance
rs1861921168:145,107,940G/A—likely benign
rs13327260788:145,107,947G/A—uncertain significance
rs1138723818:145,107,952C/T—likely benign
rs7826145548:145,107,971C/G—uncertain significance
rs12357081688:145,107,977T/G—uncertain significance
rs2016643958:145,107,999G/A—uncertain significance
rs3721444828:145,108,024A/C—likely benign
rs14451719228:145,108,036G/A—likely benign
rs15547581698:145,108,099T/G—likely benign
rs14301348208:145,108,135G/A—likely pathogenic
rs3722714268:145,108,141C/T—uncertain significance
rs1469135838:145,108,142G/A—likely benign
rs617325338:145,108,151G/A—benign
rs2007020418:145,108,191T/C—likely benign
rs1478740578:145,108,213G/A—uncertain significance
rs7825609348:145,108,221G/A—uncertain significance
rs10250853778:145,108,250G/A—likely benign
rs21297641728:145,108,255A/T—uncertain significance
rs1821725638:145,108,261G/A—benign

Showing 100 of 395 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.