PCNT

pericentrin

Summary

The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

Known Variants2,749 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11492131321:47,743,939C/T—likely benign
rs7755855821:47,743,954C/T—benign
rs11578489021:47,743,976C/T—likely benign
rs74740168821:47,744,068G/A—uncertain significance
rs88605717721:47,744,108T/A—uncertain significance
rs75531128421:47,744,110A/G—uncertain significance
rs20223964021:47,744,118G/C—likely benign
rs13859591421:47,744,127G/T—benign
rs160172269821:47,744,128C/G—likely benign
rs37677494721:47,744,137A/T—likely benign
rs117593776221:47,744,149G/A—uncertain significance
rs76154048621:47,744,158G/C—uncertain significance
rs251783624121:47,744,163G/A—likely benign
rs37527975921:47,744,166G/C—conflicting classifications of pathogenicity
rs208327778221:47,744,169C/T—likely benign
rs74995381821:47,744,171G/C—uncertain significance
rs75564161621:47,744,175G/A—likely benign
rs116042792321:47,744,178G/A—likely benign
rs75477995721:47,744,187G/C—likely benign
rs251783635721:47,744,188A/C—likely benign
rs77875774421:47,744,190G/A—likely benign
rs105552243321:47,744,191A/G—likely benign
rs77228693321:47,744,193G/C—likely benign
rs36771124721:47,744,196G/A—uncertain significance
rs8001705121:47,744,202C/T—benign
rs77100065321:47,744,205T/A—likely benign
rs126591119921:47,744,208G/C—likely benign
rs146291355321:47,744,209G/A—likely benign
rs36861400121:47,744,210G/A—likely benign
rs77011085221:47,744,216T/C—likely benign
rs55293813221:47,744,337C/T—likely benign
rs56478501721:47,744,357C/T—likely benign
rs132753621521:47,746,272T/A—likely benign
rs135143379521:47,746,273A/G—likely benign
rs78131615921:47,746,274T/A—likely benign
rs251787695321:47,746,276T/C—likely benign
rs37302041721:47,746,277A/G—likely benign
rs156915288021:47,746,278C/T—likely benign
rs251787709121:47,746,284T/G—likely benign
rs58778431021:47,746,286C/T—conflicting classifications of pathogenicity
rs76911566221:47,746,287G/A—likely benign
rs77621005421:47,746,299C/T—likely benign
rs75822800521:47,746,307A/G—uncertain significance
rs36938202021:47,746,326C/T—likely benign
rs74597016521:47,746,327A/G—uncertain significance
rs74979256021:47,746,332G/T—likely benign
rs37270597021:47,746,338G/C—likely benign
rs122241523621:47,746,344A/G—likely benign
rs103512503921:47,746,350G/A—likely benign
rs208339723921:47,746,353G/A—likely benign
rs75911696221:47,746,365C/T—likely benign
rs20120758121:47,746,368G/C—likely benign
rs76286315021:47,746,374C/T—conflicting classifications of pathogenicity
rs11283707121:47,746,375G/C—uncertain significance
rs37341190221:47,746,378G/C—benign
rs37616634721:47,746,380G/C—likely benign
rs121429159021:47,746,386C/G—likely benign
rs251787768721:47,746,389G/A—likely benign
rs251787773321:47,746,397G/A—uncertain significance
rs160173460521:47,746,398T/C—likely benign
rs52843390921:47,746,401G/A—likely benign
rs79704587621:47,746,411G/A—uncertain significance
rs20180862121:47,746,413G/A—likely benign
rs77497432721:47,746,419C/T—likely benign
rs55764133921:47,746,425C/G—likely benign
rs58777935521:47,746,432G/Tstop gainedpathogenic
rs121680430221:47,746,438G/C—likely benign
rs14808031921:47,746,440C/T—likely benign
rs251787801421:47,746,443T/G—uncertain significance
rs75071754421:47,746,455A/T—likely benign
rs141102150921:47,746,458A/G—likely benign
rs75398243221:47,746,464C/T—likely benign
rs251787816921:47,746,467C/T—likely benign
rs77798432221:47,746,470C/A—likely benign
rs74559878821:47,746,472C/T—conflicting classifications of pathogenicity
rs14387003021:47,746,480G/A—uncertain significance
rs74689063221:47,746,482A/G—likely benign
rs88604236121:47,746,483G/C—uncertain significance
rs251787829721:47,746,488G/A—likely benign
rs76811200821:47,746,491C/A—likely benign
rs76834276021:47,746,498G/A—uncertain significance
rs76164789221:47,746,502A/G—uncertain significance
rs77197150021:47,746,506A/G—uncertain significance
rs77289140621:47,746,516A/G—likely benign
rs20180208621:47,746,517A/G—likely benign
rs75407485621:47,746,520T/G—likely benign
rs75972928321:47,746,521T/C—likely benign
rs7843836221:47,746,666G/A—likely benign
rs14046364821:47,753,981T/C—likely benign
rs15039691821:47,753,988G/A—likely benign
rs102138988821:47,754,118C/A—likely benign
rs251795390721:47,754,292C/T—likely benign
rs141020208621:47,754,294G/T—likely benign
rs160175890221:47,754,297C/T—likely benign
rs251795403821:47,754,298C/T—likely benign
rs77704231321:47,754,302C/G—likely benign
rs208366182421:47,754,303C/G—likely benign
rs251795421721:47,754,306C/T—likely benign
rs156916234921:47,754,307T/C—likely benign
rs251795432521:47,754,331G/A—likely benign

Showing 100 of 2,749 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.