AP4M1

adaptor related protein complex 4 subunit mu 1

Summary

This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [provided by RefSeq, Jul 2008]

Known Variants327 total

rsidPosition (GRCh37)AllelesClassClinVar
rs760003577:99,698,790C/G—benign
rs15343107:99,699,169A/T—benign
rs7802568517:99,699,328C/T—likely benign
rs9688768297:99,699,340G/C—uncertain significance
rs25469458937:99,699,346C/A—likely benign
rs7772204387:99,699,347C/T—pathogenic
rs5682921467:99,699,349A/T—uncertain significance
rs7624941237:99,699,356A/C—uncertain significance
rs7510687247:99,699,363C/T—uncertain significance
rs25469459897:99,699,366C/T—uncertain significance
rs5395899677:99,699,367C/T—likely benign
rs3706771127:99,699,382C/T—likely benign
rs12195827217:99,699,392G/A—uncertain significance
rs1496617837:99,699,394C/T—uncertain significance
rs15543772627:99,699,397T/G—likely pathogenic
rs21166141997:99,699,398A/G—uncertain significance
rs1893671187:99,699,407C/T—benign
rs25469462427:99,699,409T/C—likely benign
rs11225987:99,699,436G/A—benign
rs7497685337:99,699,486G/A—likely benign
rs7712324117:99,699,487T/C—likely benign
rs2021644347:99,699,489C/G—likely benign
rs7748469067:99,699,492C/T—likely benign
rs7650961177:99,699,504C/T—likely benign
rs21166163227:99,699,507C/T—likely benign
rs10417399867:99,699,508G/C—uncertain significance
rs7678497617:99,699,512A/G—benign
rs7777325817:99,699,528T/C—likely benign
rs12021348837:99,699,529G/A—uncertain significance
rs7543002157:99,699,530T/C—uncertain significance
rs14184457137:99,699,534C/G—likely benign
rs1402865597:99,699,536A/T—uncertain significance
rs2021438757:99,699,537G/A—likely benign
rs25469471417:99,699,548G/T—uncertain significance
rs1440164157:99,699,557C/T—uncertain significance
rs7608358797:99,699,573C/A—uncertain significance
rs7577473867:99,699,580C/G—uncertain significance
rs1413315587:99,699,581C/T—uncertain significance
rs2005678047:99,699,590T/A—uncertain significance
rs15845051127:99,699,601G/A—likely benign
rs2008373967:99,699,603C/T—likely benign
rs22934817:99,699,626T/C—benign
rs1925098857:99,699,833G/A—likely benign
rs412809627:99,700,274C/G—benign
rs7457146607:99,700,280T/C—likely benign
rs7620438487:99,700,287C/T—likely benign
rs7652704527:99,700,288T/C—likely benign
rs9694428917:99,700,305A/G—uncertain significance
rs7552428677:99,700,311G/A—uncertain significance
rs5781147057:99,700,313C/T—uncertain significance
rs9900911557:99,700,319A/G—uncertain significance
rs7773924327:99,700,323A/G—uncertain significance
rs7488045497:99,700,325A/G—uncertain significance
rs25469503247:99,700,329G/C—uncertain significance
rs7458297527:99,700,336C/A—uncertain significance
rs13622148717:99,700,338G/C—uncertain significance
rs3676148757:99,700,339C/T—conflicting classifications of pathogenicity
rs7483482797:99,700,342C/G—likely benign
rs13711164657:99,700,355A/C—uncertain significance
rs7628766197:99,700,369C/T—likely benign
rs3771784477:99,700,370G/A—conflicting classifications of pathogenicity
rs17961591687:99,700,376C/T—uncertain significance
rs412809657:99,700,378C/T—likely benign
rs7531574297:99,700,388C/T—likely benign
rs2001569987:99,700,393A/G—likely benign
rs1504004807:99,700,394C/G—uncertain significance
rs7539115997:99,700,418G/A—likely benign
rs7468723997:99,700,424G/A—likely benign
rs749612847:99,700,471C/T—benign
rs5493585727:99,700,475G/C—likely benign
rs25469509507:99,700,477G/A—likely benign
rs7810690027:99,700,483T/C—uncertain significance
rs7788493667:99,700,505C/T—likely benign
rs7970452487:99,700,511C/T—uncertain significance
rs3760255947:99,700,521C/G—uncertain significance
rs7502126607:99,700,526C/T—likely benign
rs2003476997:99,700,527G/A—conflicting classifications of pathogenicity
rs7728543987:99,700,531G/T—uncertain significance
rs7658948537:99,700,536A/T—uncertain significance
rs7549799227:99,700,542C/T—uncertain significance
rs7574191977:99,700,563G/C—uncertain significance
rs1384379667:99,700,565A/C—conflicting classifications of pathogenicity
rs7461086227:99,700,574T/G—uncertain significance
rs7606039687:99,700,591T/G—likely benign
rs7458572027:99,700,592C/T—likely benign
rs7768541837:99,700,600C/T—likely benign
rs7484784307:99,700,601C/T—likely benign
rs7700659807:99,700,602C/T—likely benign
rs9998867:99,700,864A/G—benign
rs13125141707:99,701,020C/T—likely benign
rs7781477677:99,701,040C/T—likely benign
rs7706235197:99,701,042A/G—uncertain significance
rs5727322417:99,701,044G/A—uncertain significance
rs21166357377:99,701,056T/C—uncertain significance
rs1472619257:99,701,060C/T—uncertain significance
rs7639517377:99,701,061G/A—likely benign
rs25469530397:99,701,062G/A—uncertain significance
rs7537362687:99,701,070G/A—likely benign
rs7517429557:99,701,083C/T—pathogenic
rs1381319677:99,701,087C/T—conflicting classifications of pathogenicity

Showing 100 of 327 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.