DNAJC12

DnaJ heat shock protein family (Hsp40) member C12

Summary

This gene encodes a member of a subclass of the HSP40/DnaJ protein family. Members of this family of proteins are associated with complex assembly, protein folding, and export. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Known Variants97 total

rsidPosition (GRCh37)AllelesClassClinVar
rs4129923810:69,556,732C/T—benign
rs7929758910:69,556,802A/G—benign
rs127377604310:69,556,875C/A—pathogenic
rs77275138710:69,556,879T/G—uncertain significance
rs156485544810:69,556,882C/T—uncertain significance
rs158959948610:69,556,892G/A—likely benign
rs77480059310:69,556,899C/G—uncertain significance
rs249277622610:69,556,929C/G—uncertain significance
rs37326169210:69,556,932C/T—uncertain significance
rs55327807710:69,556,933G/A—uncertain significance
rs37003286410:69,556,947C/T—pathogenic
rs78112311310:69,556,954T/C—uncertain significance
rs78113330510:69,556,968C/A—uncertain significance
rs710109310:69,557,245A/G—benign
rs7509417010:69,565,209T/C—benign
rs7816200310:69,565,227A/G—benign
rs7797181210:69,565,290A/G—benign
rs37095780210:69,565,322G/A—likely benign
rs18527043910:69,565,332G/A—likely benign
rs75582947310:69,565,340C/G—pathogenic
rs75337467610:69,565,359G/A—pathogenic
rs20147029810:69,565,360C/T—likely benign
rs15059541110:69,565,364G/A—conflicting classifications of pathogenicity
rs96542041110:69,565,366G/C—likely benign
rs97677757210:69,565,382G/T—uncertain significance
rs74757901310:69,565,401C/T—uncertain significance
rs7414290110:69,565,413C/T—conflicting classifications of pathogenicity
rs249278657010:69,565,427T/C—uncertain significance
rs184179320710:69,565,440T/C—uncertain significance
rs20001417910:69,565,445C/A—uncertain significance
rs147028115210:69,565,448T/C—uncertain significance
rs3609912310:69,565,456A/C—benign
rs3569002810:69,565,471C/A—benign
rs122713850810:69,565,483A/G—likely benign
rs184179414310:69,565,496G/T—uncertain significance
rs184179463510:69,565,534C/A—pathogenic
rs249278677910:69,565,539G/A—uncertain significance
rs184179485710:69,565,547T/G—pathogenic
rs77455180110:69,565,561G/A—likely benign
rs7327197710:69,565,811C/T—benign
rs36798639410:69,571,261C/T—likely benign
rs74951155010:69,571,262G/A—likely benign
rs7706892010:69,571,264A/C—benign
rs77883084510:69,571,266C/T—likely benign
rs74600686710:69,571,270C/T—likely benign
rs123402662810:69,571,278C/G—uncertain significance
rs20747112510:69,571,283G/A—uncertain significance
rs249279384710:69,571,288C/T—likely benign
rs37705152310:69,571,294G/T—uncertain significance
rs20218668610:69,571,327C/T—likely benign
rs14817617910:69,571,328G/C—uncertain significance
rs213179730310:69,571,334T/C—uncertain significance
rs374004910:69,571,336A/G—benign
rs15025751910:69,571,342T/C—benign
rs77212031010:69,571,344G/A—pathogenic
rs78001172910:69,571,350G/A—uncertain significance
rs37292234410:69,571,355T/C—uncertain significance
rs76978918410:69,571,358C/A—uncertain significance
rs18296117210:69,571,359G/A—uncertain significance
rs77066460610:69,571,361G/C—uncertain significance
rs103579409910:69,571,364C/Gmissense variantpathogenic
rs56924027110:69,571,365G/A—pathogenic
rs76123575510:69,571,392T/A—pathogenic
rs75759810210:69,571,415G/A—uncertain significance
rs13889501410:69,571,417C/T—benign
rs77502966410:69,571,423T/Asplice region variantpathogenic
rs37615234610:69,571,434T/C—likely benign
rs7553669710:69,582,937T/C—benign
rs37164850810:69,583,061T/C—likely benign
rs103638653410:69,583,067C/A—uncertain significance
rs78126420110:69,583,089G/T—uncertain significance
rs105557847310:69,583,105G/A—uncertain significance
rs6175722110:69,583,114G/A—likely benign
rs127799055210:69,583,152T/C—pathogenic
rs11635195110:69,583,159A/C—likely benign
rs184199964110:69,583,163T/C—likely benign
rs76317744510:69,583,167T/C—likely benign
rs74987541310:69,583,170T/G—likely benign
rs96260810:69,583,206G/A—benign
rs11785052010:69,583,400A/G—benign
rs454073910:69,583,419G/A—benign
rs3585819210:69,583,855A/Gdownstream gene variant—
rs13864511410:69,586,392T/Gupstream gene variant—
rs18142719710:69,586,512T/Gupstream gene variant—
rs790080610:69,594,595A/Tdownstream gene variant—
rs77375681810:69,597,673A/C—likely benign
rs213182025810:69,597,690A/G—likely pathogenic
rs140994380510:69,597,692C/T—uncertain significance
rs37533113810:69,597,693G/A—uncertain significance
rs213182027410:69,597,698T/C—likely benign
rs137154718410:69,597,723T/C—uncertain significance
rs36820464710:69,597,735G/A—conflicting classifications of pathogenicity
rs213182035110:69,597,767C/T—likely pathogenic
rs227377110:69,597,786G/A—benign
rs227377210:69,597,824C/T—likely benign
rs11275074510:69,598,134T/C—benign
rs707430310:69,599,486A/Gupstream gene variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.