JMJD1C

jumonji domain containing 1C

Summary

The protein encoded by this gene interacts with thyroid hormone receptors and contains a jumonji domain. It is a candidate histone demethylase and is thought to be a coactivator for key transcription factors. It plays a role in the DNA-damage response pathway by demethylating the mediator of DNA damage checkpoint 1 (MDC1) protein, and is required for the survival of acute myeloid leukemia. Mutations in this gene are associated with Rett syndrome and intellectual disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Known Variants1,325 total

rsidPosition (GRCh37)AllelesClassClinVar
rs37107067810:64,927,807A/C—uncertain significance
rs123011953510:64,927,808A/G—likely benign
rs156453956210:64,927,816C/G—uncertain significance
rs193510:64,927,823C/G—benign
rs147371425110:64,927,828C/G—uncertain significance
rs144416321310:64,927,834C/A—uncertain significance
rs18632105610:64,927,835C/T—likely benign
rs7150895710:64,927,837C/T—likely benign
rs37503113410:64,927,838G/A—likely benign
rs75163693310:64,927,840G/T—uncertain significance
rs75513103110:64,927,852C/G—uncertain significance
rs37054419910:64,927,894C/T—uncertain significance
rs37490539210:64,927,903G/T—likely benign
rs148044986610:64,927,906G/A—likely benign
rs77855716510:64,927,908T/C—likely benign
rs249212715510:64,927,910A/G—likely benign
rs75186156010:64,928,178G/A—likely benign
rs184204869210:64,928,191T/C—uncertain significance
rs158903182210:64,928,192T/C—uncertain significance
rs249213352410:64,928,208T/A—uncertain significance
rs184204972210:64,928,210A/G—likely benign
rs184205101710:64,928,219T/G—uncertain significance
rs52969895910:64,928,225C/T—likely benign
rs53287883810:64,928,233G/T—uncertain significance
rs37203308510:64,928,251A/G—likely benign
rs139947747910:64,928,266C/T—uncertain significance
rs133298950610:64,928,288A/G—likely benign
rs75821161210:64,928,295G/A—uncertain significance
rs77963809410:64,928,305T/C—uncertain significance
rs74663113210:64,928,326C/T—uncertain significance
rs190429610:64,932,779C/Gintron variant—
rs99738179310:64,936,041A/G—likely benign
rs14214548410:64,936,044A/G—benign
rs37481197810:64,936,045G/A—likely benign
rs36887965010:64,936,054T/C—uncertain significance
rs54098774210:64,936,072C/T—likely benign
rs158905390210:64,936,084A/T—likely benign
rs14445993010:64,936,086T/C—uncertain significance
rs213280624010:64,936,095C/T—uncertain significance
rs133762905310:64,936,099G/A—likely benign
rs54313187210:64,936,110G/C—uncertain significance
rs77718907610:64,936,130T/C—uncertain significance
rs131118485910:64,936,155G/A—uncertain significance
rs76063087110:64,936,185G/C—uncertain significance
rs77311076410:64,936,188T/C—uncertain significance
rs75396472810:64,936,204T/C—likely benign
rs37136645010:64,936,228T/C—likely benign
rs118723678710:64,936,231A/G—likely benign
rs213280737310:64,936,235T/C—uncertain significance
rs1099545510:64,936,361G/Aintron variant—
rs76881506410:64,937,463A/G—likely benign
rs37076067510:64,937,471T/G—uncertain significance
rs126938026110:64,937,482G/T—uncertain significance
rs3449112510:64,937,501G/C—benign
rs20165343010:64,937,506C/T—uncertain significance
rs120819483510:64,937,510T/C—likely benign
rs76732185610:64,937,533G/C—benign
rs121736275210:64,937,542G/C—uncertain significance
rs184298900910:64,937,549A/T—uncertain significance
rs124176976410:64,937,563A/G—likely benign
rs37025641910:64,937,567T/C—likely benign
rs213282101910:64,937,578T/C—uncertain significance
rs76384540210:64,937,587A/G—likely benign
rs184299343210:64,937,600A/T—uncertain significance
rs134289846510:64,937,609G/C—likely benign
rs249224592610:64,937,625A/C—likely benign
rs148828910310:64,937,632A/G—likely benign
rs7282917310:64,941,985G/Aintron variant—
rs184372863610:64,943,195T/C—likely benign
rs184372968410:64,943,216A/G—uncertain significance
rs213288463310:64,943,217G/A—likely benign
rs36867871810:64,943,221A/C—uncertain significance
rs184373251810:64,943,273A/C—uncertain significance
rs155482804410:64,943,302A/G—uncertain significance
rs77327869110:64,943,309G/C—uncertain significance
rs74933593710:64,943,313T/A—uncertain significance
rs135486594510:64,943,349T/G—likely benign
rs213290004210:64,944,354G/A—likely benign
rs249233735010:64,944,370T/C—uncertain significance
rs213290016410:64,944,378G/A—likely benign
rs7905910310:64,944,381C/T—benign
rs74689531610:64,944,403C/T—uncertain significance
rs92564136610:64,944,404G/A—uncertain significance
rs19960831810:64,944,407C/G—uncertain significance
rs36906033210:64,944,417T/C—likely benign
rs213290038610:64,944,420C/T—likely benign
rs77277315010:64,944,427G/C—uncertain significance
rs136524015210:64,944,438G/C—uncertain significance
rs76578567010:64,944,441T/C—likely benign
rs89161006310:64,944,453A/G—likely benign
rs76003642310:64,944,471T/G—likely benign
rs37577245810:64,944,478C/T—uncertain significance
rs103063735510:64,944,481T/C—uncertain significance
rs134930367710:64,944,485A/C—uncertain significance
rs184390941410:64,944,488G/C—uncertain significance
rs14057534410:64,944,495G/C—uncertain significance
rs55594824210:64,944,502A/G—likely benign
rs74601190610:64,944,515T/C—uncertain significance
rs104619749410:64,944,518C/T—likely benign
rs249235238710:64,945,318C/G—uncertain significance

Showing 100 of 1,325 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.