RPS19

ribosomal protein S19

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 ribosomal protein that is a component of the 40S subunit. The protein belongs to the S19E family of ribosomal proteins. It is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia (DBA), a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors, in a subset of patients. This suggests a possible extra-ribosomal function for this gene in erythropoietic differentiation and proliferation, in addition to its ribosomal function. Higher expression levels of this gene in some primary colon carcinomas compared to matched normal colon tissues has been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]

Known Variants177 total

rsidPosition (GRCh37)AllelesClassClinVar
rs6176121619:42,362,408C/Tupstream gene variant—
rs88605446519:42,364,021T/C—uncertain significance
rs19255692619:42,364,072A/C—benign
rs7740699219:42,364,086T/C—benign
rs14232425919:42,364,126G/A—benign
rs105355063719:42,364,170C/G—uncertain significance
rs146580588619:42,364,180C/T—uncertain significance
rs57817470419:42,364,193C/T—uncertain significance
rs88605446619:42,364,209G/T—uncertain significance
rs88605446719:42,364,221C/T—uncertain significance
rs207401032719:42,364,223C/T—uncertain significance
rs88605446819:42,364,286C/T—uncertain significance
rs88663476719:42,364,310G/A—uncertain significance
rs56125964019:42,364,327C/T—uncertain significance
rs207401248419:42,364,334C/T—uncertain significance
rs56463480119:42,364,350A/G—likely benign
rs88605446919:42,364,373C/T—uncertain significance
rs7444903519:42,364,385T/G—benign
rs93010219:42,364,395T/C—benign
rs6176121819:42,364,453C/G—benign
rs20131702219:42,364,831A/G—likely benign
rs20063460019:42,364,832C/T—likely benign
rs37646008019:42,364,836C/T—uncertain significance
rs78280164319:42,364,838C/T—conflicting classifications of pathogenicity
rs212325591319:42,364,845A/C—pathogenic
rs13893803519:42,364,847G/Amissense variantpathogenic
rs78251202619:42,364,850T/G—likely benign
rs78269367919:42,364,854G/T—uncertain significance
rs212325603819:42,364,859T/A—likely benign
rs78253652019:42,364,868C/T—likely benign
rs155583902619:42,364,869G/A—uncertain significance
rs251366612719:42,364,878C/T—pathogenic
rs10489471719:42,364,887G/Amissense variantuncertain significance
rs78232942919:42,364,893G/Cmissense variantpathogenic
rs13836674419:42,364,896C/T—likely benign
rs207402131019:42,364,897T/C—pathogenic
rs212325623719:42,364,901A/G—likely benign
rs14924919419:42,364,904C/G—likely benign
rs207402164819:42,364,908C/T—uncertain significance
rs14347710419:42,364,912A/G—conflicting classifications of pathogenicity
rs212325634219:42,364,916G/C—likely pathogenic
rs207402175919:42,364,921T/A—uncertain significance
rs78206103319:42,364,933G/A—likely benign
rs37761536419:42,364,934G/A—likely benign
rs56604744519:42,365,089A/G—likely benign
rs15015118419:42,365,164C/G—likely benign
rs53053727819:42,365,166C/G—conflicting classifications of pathogenicity
rs117639987919:42,365,171T/G—likely benign
rs251366705519:42,365,172T/A—uncertain significance
rs14636604719:42,365,180G/A—likely pathogenic
rs37034329719:42,365,184C/T—likely benign
rs251366711619:42,365,188A/T—pathogenic
rs251366711919:42,365,189A/G—uncertain significance
rs1154025619:42,365,196A/G—likely benign
rs78270898819:42,365,199C/G—likely benign
rs131852091619:42,365,202C/G—likely benign
rs251366716919:42,365,203G/T—pathogenic
rs10489471619:42,365,207G/Astop gainedpathogenic
rs207402688019:42,365,208G/A—pathogenic
rs251366721619:42,365,215A/G—uncertain significance
rs78214530219:42,365,217C/T—likely benign
rs78186171619:42,365,218G/T—uncertain significance
rs13839529619:42,365,221A/C—uncertain significance
rs207402716719:42,365,223G/A—likely benign
rs78183328719:42,365,229C/G—likely benign
rs145470694519:42,365,233C/T—uncertain significance
rs37156011819:42,365,235C/T—likely benign
rs140067474619:42,365,237A/G—uncertain significance
rs78258797219:42,365,241G/A—likely benign
rs106479325319:42,365,248C/T—uncertain significance
rs251366732819:42,365,249C/T—likely pathogenic
rs14357798019:42,365,250C/T—likely benign
rs138552184819:42,365,254G/C—uncertain significance
rs105040685119:42,365,268C/T—likely benign
rs251366741119:42,365,271C/G—pathogenic
rs14750836919:42,365,273C/Tmissense variantpathogenic
rs251366742919:42,365,274G/A—likely benign
rs251366743619:42,365,275C/T—pathogenic
rs251366744119:42,365,276G/A—likely pathogenic
rs155583919019:42,365,278G/C—likely pathogenic
rs78192608719:42,365,284G/A—uncertain significance
rs88605447119:42,365,286G/C—uncertain significance
rs251366753719:42,365,298T/C—likely benign
rs6176122919:42,366,192A/G—uncertain significance
rs78279194019:42,373,081C/G—likely benign
rs78249526219:42,373,082C/G—benign
rs78271738419:42,373,085C/T—likely benign
rs78255261419:42,373,092T/C—conflicting classifications of pathogenicity
rs155584129419:42,373,095C/T—likely benign
rs11183376419:42,373,099A/G—pathogenic
rs212328362219:42,373,100G/T—pathogenic
rs251368283619:42,373,104C/T—likely pathogenic
rs78263704919:42,373,106A/Cmissense variantpathogenic
rs96769239319:42,373,110C/T—uncertain significance
rs78272704719:42,373,111G/A—likely benign
rs10489471119:42,373,112C/Tmissense variantpathogenic
rs155584130119:42,373,113G/A—pathogenic
rs251368288519:42,373,116A/C—uncertain significance
rs155584130719:42,373,119T/C—pathogenic
rs14406983819:42,373,120G/C—conflicting classifications of pathogenicity

Showing 100 of 177 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.