CEP250

centrosomal protein 250

Summary

This gene encodes a core centrosomal protein required for centriole-centriole cohesion during interphase of the cell cycle. The encoded protein dissociates from the centrosomes when parental centrioles separate at the beginning of mitosis. The protein associates with and is phosphorylated by NIMA-related kinase 2, which is also associated with the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

Known Variants1,285 total

rsidPosition (GRCh37)AllelesClassClinVar
rs77890342420:34,050,198G/A—likely benign
rs251553108820:34,050,207C/T—likely benign
rs214667088120:34,050,216G/A—likely benign
rs74794654920:34,050,222C/A—uncertain significance
rs14139354120:34,050,241C/A—uncertain significance
rs251553172620:34,050,243G/C—uncertain significance
rs119112836020:34,050,247G/C—uncertain significance
rs139133052920:34,050,250C/T—likely benign
rs251553214120:34,050,264G/T—likely benign
rs77274230820:34,050,265C/G—uncertain significance
rs206277681420:34,050,282G/C—uncertain significance
rs160111479420:34,050,291G/T—uncertain significance
rs129947100820:34,050,298G/A—uncertain significance
rs54790621020:34,050,311G/A—uncertain significance
rs125978104420:34,050,315G/C—uncertain significance
rs206277796920:34,050,331G/A—uncertain significance
rs136229073620:34,050,350C/A—uncertain significance
rs126921530820:34,050,392C/G—likely benign
rs97810164420:34,050,393C/G—likely benign
rs75261172320:34,050,394T/G—likely benign
rs251553487420:34,050,396T/C—likely benign
rs75827949320:34,050,397T/A—likely benign
rs76085853720:34,051,384G/C—likely benign
rs95216375020:34,051,395T/C—likely benign
rs120439923120:34,051,408G/A—likely benign
rs36893274220:34,051,412C/T—pathogenic
rs75404229620:34,051,413G/A—uncertain significance
rs19957994320:34,051,440G/A—uncertain significance
rs78089158320:34,051,441G/T—likely benign
rs206280760720:34,051,454G/A—uncertain significance
rs206280767320:34,051,455G/C—uncertain significance
rs121456318020:34,051,468T/C—likely benign
rs119266537520:34,053,559C/A—likely benign
rs37736121320:34,053,562G/A—likely benign
rs93352323320:34,053,563C/T—likely benign
rs77709358720:34,053,564G/A—likely benign
rs118241590720:34,053,569G/A—uncertain significance
rs20208626520:34,053,571C/T—uncertain significance
rs53968740720:34,053,572C/T—uncertain significance
rs55815482120:34,053,579C/T—likely benign
rs86654997920:34,053,580C/G—uncertain significance
rs11610180620:34,053,581A/G—uncertain significance
rs206286293520:34,053,587G/A—pathogenic
rs76161552620:34,053,597G/A—likely benign
rs214670370420:34,053,598G/A—uncertain significance
rs37459066120:34,053,601G/A—uncertain significance
rs132978617620:34,053,604C/A—uncertain significance
rs206286355120:34,053,607A/G—uncertain significance
rs206286431620:34,053,627C/T—likely benign
rs126606405520:34,053,628C/T—pathogenic
rs36768909020:34,053,629G/A—uncertain significance
rs206286478820:34,053,644A/G—uncertain significance
rs89815781220:34,053,660C/T—likely benign
rs75337022020:34,053,664A/G—likely benign
rs251558081520:34,053,849C/A—likely benign
rs76047175020:34,053,855C/G—likely benign
rs37545817220:34,053,860G/A—likely benign
rs75354680220:34,053,864G/A—uncertain significance
rs36989492520:34,053,890C/T—benign
rs37731486220:34,053,894G/A—likely benign
rs134129877320:34,053,898C/T—pathogenic
rs78176296920:34,053,899G/A—uncertain significance
rs36877712020:34,053,903G/A—likely benign
rs251558194720:34,053,906C/T—likely benign
rs75089388720:34,053,907A/T—uncertain significance
rs14755427120:34,053,921C/T—likely benign
rs78024273720:34,053,922G/A—uncertain significance
rs251558220620:34,053,924G/A—likely benign
rs74956541720:34,053,936C/T—likely benign
rs91104897920:34,053,939T/C—likely benign
rs214670800320:34,053,942G/A—likely benign
rs76936938620:34,053,948T/C—likely benign
rs77616209720:34,053,949G/A—uncertain significance
rs251558296420:34,053,971G/A—pathogenic
rs94123316920:34,053,976C/T—uncertain significance
rs77207635020:34,053,977G/A—uncertain significance
rs76347402720:34,053,983G/A—uncertain significance
rs214670849920:34,053,984G/A—likely benign
rs136441261720:34,053,991C/T—likely benign
rs37590645220:34,053,998G/A—uncertain significance
rs105661252220:34,054,004A/G—uncertain significance
rs123215950020:34,054,005G/A—likely benign
rs14078372920:34,054,019T/C—uncertain significance
rs251558459420:34,054,036A/C—likely benign
rs20095234720:34,054,040C/T—likely benign
rs75665739620:34,054,041G/A—likely benign
rs22435420:34,054,609G/C—benign
rs229640220:34,054,729T/C—benign
rs206289383620:34,054,781G/A—likely benign
rs127690054120:34,054,789A/G—likely pathogenic
rs20008304020:34,054,790G/A—conflicting classifications of pathogenicity
rs123348473020:34,054,802C/T—likely benign
rs74698625720:34,054,811A/G—likely benign
rs121119759120:34,054,818C/A—uncertain significance
rs77074866320:34,054,820C/T—likely benign
rs77654520820:34,054,821G/A—uncertain significance
rs15011088520:34,054,824C/T—uncertain significance
rs20192723520:34,054,825G/A—uncertain significance
rs251559506220:34,054,834G/T—uncertain significance
rs143403324620:34,054,837T/C—uncertain significance

Showing 100 of 1,285 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.