CHMP1A

charged multivesicular body protein 1A

Summary

This gene encodes a member of the CHMP/Chmp family of proteins which are involved in multivesicular body sorting of proteins to the interiors of lysosomes. The initial prediction of the protein sequence encoded by this gene suggested that the encoded protein was a metallopeptidase. The nomenclature has been updated recently to reflect the correct biological function of this encoded protein. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

Known Variants196 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5764188516:89,710,657T/Cdownstream gene variant—
rs686016:89,711,120C/T3 prime UTR variant—
rs7820898716:89,712,038A/C—likely benign
rs7326537616:89,712,082G/C—likely benign
rs375169216:89,712,138T/G—likely benign
rs11677604616:89,712,353C/G—likely benign
rs37536685416:89,712,365G/A—uncertain significance
rs11755500416:89,712,374A/C—benign
rs6174759116:89,712,379C/T—benign
rs11695445616:89,712,380G/A—benign
rs54221512116:89,712,381C/T—uncertain significance
rs36797029216:89,712,406G/C—likely benign
rs76828865116:89,712,417G/A—uncertain significance
rs20125928216:89,712,440C/A—uncertain significance
rs36844862316:89,712,464C/T—uncertain significance
rs74641147816:89,712,465G/A—uncertain significance
rs76822945116:89,712,467G/A—likely benign
rs77304517016:89,712,478T/C—uncertain significance
rs105710893216:89,712,488C/G—uncertain significance
rs205977135816:89,712,496C/G—uncertain significance
rs205977141516:89,712,512G/C—likely benign
rs5735958416:89,712,515C/G—benign
rs14185796716:89,712,623A/C—likely benign
rs6206873416:89,712,733C/T—likely benign
rs11518718516:89,712,781C/T—likely benign
rs46087916:89,712,889C/T—benign
rs74767006116:89,712,915G/A—likely benign
rs156799935416:89,712,946C/G—uncertain significance
rs37591271316:89,712,952C/G—uncertain significance
rs54403685616:89,712,962C/T—conflicting classifications of pathogenicity
rs19072171216:89,712,976G/A—likely benign
rs53088255516:89,712,982G/A—likely benign
rs117232355916:89,712,988G/A—likely benign
rs77190996916:89,712,990C/T—uncertain significance
rs129685752916:89,712,991G/A—likely benign
rs6173091816:89,712,997G/A—likely benign
rs124238331416:89,713,007C/A—uncertain significance
rs120006248316:89,713,015G/T—uncertain significance
rs131683049116:89,713,016T/C—uncertain significance
rs20066958716:89,713,042G/A—likely benign
rs20016002416:89,713,045G/A—likely benign
rs254344168016:89,713,072C/T—uncertain significance
rs37048040916:89,713,078C/T—conflicting classifications of pathogenicity
rs77847469316:89,713,081C/T—likely benign
rs6173091916:89,713,096G/A—conflicting classifications of pathogenicity
rs76870374516:89,713,099C/T—uncertain significance
rs77683482116:89,713,100G/A—uncertain significance
rs205977663016:89,713,120C/T—likely benign
rs74774837916:89,713,128G/A—likely benign
rs88697876816:89,713,129G/A—likely benign
rs11663424016:89,713,130C/A—benign
rs76795497216:89,713,131A/G—likely benign
rs46098416:89,713,174C/T—benign
rs13967864916:89,713,297C/A—likely benign
rs7403381816:89,713,394C/A—benign
rs11814865816:89,713,423C/T—benign
rs7928438316:89,713,563C/G—benign
rs20130398616:89,713,575C/G—likely benign
rs56653248316:89,713,594G/A—likely benign
rs20194591916:89,713,612G/C—uncertain significance
rs76382133416:89,713,614T/C—likely benign
rs96369508916:89,713,622C/T—uncertain significance
rs76535925716:89,713,626C/T—uncertain significance
rs106479460916:89,713,646C/G—uncertain significance
rs74726030416:89,713,647G/A—likely benign
rs57679095916:89,713,659C/T—likely benign
rs37197784016:89,713,665G/C—uncertain significance
rs77027028616:89,713,671C/T—conflicting classifications of pathogenicity
rs122025630416:89,713,682C/T—uncertain significance
rs77174095816:89,713,688T/C—uncertain significance
rs77523562216:89,713,689G/A—likely benign
rs118850092016:89,713,695G/A—conflicting classifications of pathogenicity
rs134306105316:89,713,706G/A—likely benign
rs37692060816:89,713,707G/A—likely benign
rs95340082516:89,713,715T/C—uncertain significance
rs215151183816:89,713,721G/A—likely pathogenic
rs254344430116:89,713,730T/A—uncertain significance
rs254344431116:89,713,732T/A—uncertain significance
rs94395285416:89,713,734G/C—conflicting classifications of pathogenicity
rs75843070316:89,713,753G/C—likely benign
rs20125438216:89,713,756C/T—likely benign
rs55640464316:89,713,757G/A—benign
rs7280559316:89,713,765G/A—likely benign
rs11647248016:89,713,793C/T—likely benign
rs14554883616:89,713,841C/T—likely benign
rs1164808916:89,713,938C/T—benign
rs11312177216:89,713,947A/G—benign
rs54875374416:89,713,961C/T—likely benign
rs42823216:89,713,969T/C—benign
rs20217025516:89,713,973G/C—benign
rs41363616:89,713,980T/C—benign
rs55223575116:89,713,981G/A—likely benign
rs53099998716:89,713,988C/T—likely benign
rs1107660816:89,713,989A/C—likely benign
rs36769774716:89,714,009C/T—benign
rs54959734216:89,714,011T/C—likely benign
rs1244772316:89,714,014A/G—likely benign
rs246045716:89,714,022T/C—benign
rs121753851416:89,714,031G/C—likely benign
rs1164179316:89,714,045C/G—likely benign

Showing 100 of 196 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.