RPL18

ribosomal protein L18

Summary

Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18E family of ribosomal proteins that is a component of the 60S subunit. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

Known Variants80 total

rsidPosition (GRCh37)AllelesClassClinVar
rs229234219:49,118,371G/Aregulatory region variant—
rs77092303619:49,118,632G/A—likely benign
rs77688135319:49,118,646G/A—uncertain significance
rs76561254019:49,118,655G/A—uncertain significance
rs75891218919:49,118,657C/T—uncertain significance
rs78075181219:49,118,670G/A—uncertain significance
rs75578468319:49,118,674G/A—likely benign
rs251385266819:49,118,680C/T—likely benign
rs19992509619:49,118,682G/A—uncertain significance
rs77433972919:49,118,697C/T—uncertain significance
rs251385273519:49,118,703G/A—uncertain significance
rs36852039219:49,118,707G/A—uncertain significance
rs251385275819:49,118,712G/A—likely benign
rs122365263519:49,118,716G/C—likely benign
rs37149190519:49,118,717G/C—likely benign
rs14065117819:49,118,720G/A—benign
rs126118696319:49,118,723G/T—likely benign
rs77338938819:49,119,121G/A—likely benign
rs76012470419:49,119,145G/A—likely benign
rs251385365219:49,119,147G/A—uncertain significance
rs75230712819:49,119,149G/A—uncertain significance
rs76023372119:49,119,153T/C—uncertain significance
rs37134292119:49,119,168C/T—uncertain significance
rs37394668119:49,119,176C/T—uncertain significance
rs1155494019:49,119,177G/A—uncertain significance
rs36813128119:49,119,188C/T—uncertain significance
rs251385375119:49,119,199A/T—likely benign
rs20018836919:49,119,208G/T—likely benign
rs36854254119:49,119,218G/A—likely benign
rs37741242219:49,119,319G/C—likely benign
rs197416072519:49,119,327A/C—likely benign
rs37074795319:49,119,337G/A—uncertain significance
rs14094162019:49,119,355A/G—benign
rs13805322919:49,119,388G/C—uncertain significance
rs251385412719:49,119,416A/C—uncertain significance
rs251385413619:49,119,423G/A—uncertain significance
rs77697224819:49,119,428C/T—uncertain significance
rs55930068919:49,119,434C/T—uncertain significance
rs77271705519:49,119,435G/A—uncertain significance
rs76259500819:49,119,437C/G—uncertain significance
rs77418584719:49,119,445G/A—likely benign
rs53345581319:49,119,468G/A—likely benign
rs75602354319:49,119,478C/T—likely benign
rs20188416319:49,119,965C/G—likely benign
rs104978317919:49,119,968C/T—likely benign
rs19188139619:49,119,972C/T—benign
rs76464608719:49,119,973G/A—likely benign
rs75435968519:49,119,995T/C—likely benign
rs77972521419:49,120,040G/A—likely benign
rs1155493619:49,120,041G/A—uncertain significance
rs14167599419:49,120,044G/A—uncertain significance
rs76539922219:49,120,053T/C—uncertain significance
rs76075416319:49,120,076C/T—likely benign
rs37456144119:49,120,078G/A—uncertain significance
rs56638088119:49,120,087G/A—benign
rs77963106919:49,120,093G/A—likely benign
rs36988019:49,120,434T/C—benign
rs20139315719:49,120,585G/T—likely benign
rs14697960519:49,120,588C/A—benign
rs75945476619:49,120,590G/C—uncertain significance
rs52895551119:49,120,594C/T—likely benign
rs156842521819:49,120,619A/G—pathogenic
rs160114058319:49,120,629A/G—likely benign
rs20052327619:49,120,684G/A—likely benign
rs20074688519:49,120,686G/C—likely benign
rs37031772019:49,120,690C/T—likely benign
rs77969598319:49,120,691G/A—likely benign
rs18202458219:49,120,698C/T—benign
rs43098919:49,120,774T/G—benign
rs102569221019:49,121,087C/T—likely benign
rs19065837119:49,121,096C/G—likely benign
rs14372855319:49,121,108G/T—likely benign
rs14617924919:49,121,122G/A—uncertain significance
rs129765416119:49,121,130A/G—uncertain significance
rs56808028819:49,121,132T/C—benign
rs11317443919:49,121,137G/A—uncertain significance
rs251385790619:49,121,141G/A—likely benign
rs1334366719:49,121,307G/A—benign
rs309428719:49,122,248T/C—benign
rs19979147319:49,122,404G/A—likely benign

Gene information from NCBI Gene. Variant classifications from ClinVar.