DNAJC21

DnaJ heat shock protein family (Hsp40) member C21

Summary

This gene encodes a member of the DNAJ heat shock protein 40 family of proteins that is characterized by two N-terminal tetratricopeptide repeat domains and a C-terminal DNAJ domain. This protein binds the precursor 45S ribosomal RNA and may be involved in early nuclear ribosomal RNA biogenesis and maturation of the 60S ribosomal subunit. Mutations in this gene result in Bone marrow failure syndrome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2017]

Known Variants299 total

rsidPosition (GRCh37)AllelesClassClinVar
rs17645173785:34,929,918T/G—likely benign
rs7624913665:34,929,930G/A—likely benign
rs7679561785:34,929,936C/T—likely benign
rs24805586085:34,929,937T/G—uncertain significance
rs13962920435:34,929,939T/G—pathogenic
rs7541431175:34,929,945G/T—likely benign
rs7575348845:34,929,947T/G—uncertain significance
rs7480315045:34,929,949G/A—uncertain significance
rs7791025555:34,929,952G/T—uncertain significance
rs7721715135:34,929,956G/C—uncertain significance
rs14413918305:34,929,967A/C—uncertain significance
rs7616933345:34,929,974A/T—uncertain significance
rs7696067645:34,929,975G/A—likely benign
rs24805593395:34,929,981C/T—likely benign
rs8792538185:34,930,018C/Gmissense variantpathogenic
rs14370400655:34,930,020G/T—uncertain significance
rs17645266905:34,930,022G/C—likely pathogenic
rs5593503675:34,930,025A/G—uncertain significance
rs2004593145:34,930,026G/A—likely benign
rs1150629315:34,930,033T/A—likely benign
rs21120055275:34,930,035C/T—likely benign
rs14388784735:34,930,036C/T—likely benign
rs24805600135:34,930,037G/T—likely benign
rs17645276985:34,930,041C/T—likely benign
rs7589661955:34,933,901A/G—likely benign
rs21120239145:34,933,904T/C—likely benign
rs24805784335:34,933,907G/A—likely benign
rs12928328975:34,933,910A/T—likely benign
rs15611804395:34,933,922A/G—pathogenic
rs7725254865:34,933,923A/G—uncertain significance
rs7656247475:34,933,939C/T—likely benign
rs7759990235:34,933,940G/A—uncertain significance
rs21120243545:34,933,970C/T—pathogenic
rs7481246075:34,933,997C/T—uncertain significance
rs17646828275:34,934,011A/G—likely benign
rs15805231395:34,934,021T/C—likely benign
rs3683990965:34,934,023A/G—conflicting classifications of pathogenicity
rs3700304595:34,934,024C/T—likely benign
rs3739094445:34,934,025G/T—likely benign
rs3758784135:34,934,031C/T—likely benign
rs1897542095:34,935,796G/A—likely benign
rs7799452275:34,935,801T/G—likely benign
rs10425948655:34,935,806G/C—likely benign
rs3738573155:34,935,811T/A—likely benign
rs2015150535:34,935,812C/A—uncertain significance
rs7537081585:34,935,821T/C—likely benign
rs7569805855:34,935,826A/G—uncertain significance
rs24805868435:34,935,836C/T—likely benign
rs7787230015:34,935,837C/G—uncertain significance
rs1486371125:34,935,845A/G—benign
rs13100604465:34,935,853T/C—uncertain significance
rs7704033345:34,935,861G/A—uncertain significance
rs2015440245:34,935,870G/T—uncertain significance
rs7657601545:34,935,876A/G—uncertain significance
rs24805873765:34,935,878C/T—likely benign
rs7537419665:34,935,891C/T—uncertain significance
rs21120316395:34,935,893C/T—likely benign
rs7785793545:34,935,894T/C—uncertain significance
rs5415034105:34,935,902C/T—conflicting classifications of pathogenicity
rs7805722045:34,935,903G/T—uncertain significance
rs7465678255:34,935,913A/C—uncertain significance
rs7714093285:34,935,939G/T—likely pathogenic
rs24805897025:34,936,231T/A—likely benign
rs21120330495:34,936,235T/A—likely benign
rs1820941065:34,936,241T/G—conflicting classifications of pathogenicity
rs24805897655:34,936,247A/C—likely pathogenic
rs3754754665:34,936,259C/T—uncertain significance
rs1474004205:34,936,260G/C—likely benign
rs17647663145:34,936,265A/G—uncertain significance
rs1877800095:34,936,267C/T—benign
rs1913196275:34,936,268G/A—uncertain significance
rs5404082275:34,936,270A/T—conflicting classifications of pathogenicity
rs13201778185:34,936,281A/G—likely benign
rs7725876395:34,936,285A/G—uncertain significance
rs1396295645:34,936,303G/C—conflicting classifications of pathogenicity
rs17647695455:34,936,310T/C—uncertain significance
rs7619519485:34,936,311G/T—likely benign
rs1995573045:34,936,323G/C—likely benign
rs7546428805:34,936,331A/G—uncertain significance
rs12161906695:34,936,335C/T—uncertain significance
rs7521888385:34,936,343T/C—uncertain significance
rs8882506945:34,936,347A/G—conflicting classifications of pathogenicity
rs7556624945:34,936,348G/A—uncertain significance
rs10017755545:34,936,353C/T—likely benign
rs21120338745:34,936,358G/A—uncertain significance
rs7589093945:34,936,367A/G—conflicting classifications of pathogenicity
rs5483447135:34,936,370C/T—uncertain significance
rs13319675835:34,936,371G/A—uncertain significance
rs5301830555:34,936,387A/G—likely benign
rs7813662585:34,937,427C/A—likely benign
rs17648120185:34,937,429A/G—likely pathogenic
rs7699422415:34,937,433A/G—likely benign
rs21120379925:34,937,441C/G—uncertain significance
rs3696676175:34,937,448C/T—likely benign
rs13462052285:34,937,450C/A—uncertain significance
rs17648133855:34,937,453A/C—uncertain significance
rs15805266535:34,937,455T/C—uncertain significance
rs7719325465:34,937,469C/T—likely benign
rs14351002905:34,937,473C/G—uncertain significance
rs3763359095:34,937,475A/G—likely benign

Showing 100 of 299 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.