CHCHD10

coiled-coil-helix-coiled-coil-helix domain containing 10

Summary

This gene encodes a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or oxidative phosphorylation. Mutations in this gene cause frontotemporal dementia and/or amyotrophic lateral sclerosis-2. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7 and 19. [provided by RefSeq, Aug 2014]

Known Variants192 total

rsidPosition (GRCh37)AllelesClassClinVar
rs105405522:24,107,934C/T—benign
rs7388180922:24,108,000C/G—benign
rs11388967022:24,108,141G/A—likely benign
rs37234237522:24,108,186C/T—likely benign
rs129424627322:24,108,199G/T—uncertain significance
rs139700430122:24,108,211G/A—likely benign
rs119786529722:24,108,213C/A—uncertain significance
rs76763094722:24,108,216G/A—uncertain significance
rs75084186022:24,108,225G/A—likely benign
rs75641297122:24,108,226G/A—likely benign
rs37577973722:24,108,227G/A—likely benign
rs144936721022:24,108,228G/C—likely benign
rs75430677822:24,108,230A/C—likely benign
rs75449253522:24,108,232C/G—likely benign
rs14018222:24,108,288G/C—benign
rs37436857522:24,108,297C/T—likely benign
rs75779547622:24,108,298G/A—likely benign
rs75713100822:24,108,300G/C—likely benign
rs74565244322:24,108,304C/T—likely benign
rs36768480422:24,108,314C/T—uncertain significance
rs11367782822:24,108,316A/G—uncertain significance
rs20170905122:24,108,318G/A—likely benign
rs14564983122:24,108,321A/G—likely benign
rs144136641922:24,108,322G/T—uncertain significance
rs251761718322:24,108,329C/T—uncertain significance
rs214592408422:24,108,335T/C—uncertain significance
rs156914952622:24,108,338A/G—uncertain significance
rs37143700722:24,108,342C/A—uncertain significance
rs76575324122:24,108,345C/T—uncertain significance
rs19957926622:24,108,346G/A—likely benign
rs160135472622:24,108,347C/T—uncertain significance
rs37290232522:24,108,352G/A—likely benign
rs214592413922:24,108,354C/T—uncertain significance
rs135874233522:24,108,359C/A—uncertain significance
rs76345398922:24,108,360A/G—uncertain significance
rs251761734522:24,108,363G/A—likely benign
rs128741914422:24,108,365G/A—uncertain significance
rs37774068822:24,108,367C/A—likely benign
rs78095979922:24,108,370G/T—uncertain significance
rs192678234922:24,108,374C/T—uncertain significance
rs93108544922:24,108,375T/A—uncertain significance
rs96401348822:24,108,390A/G—uncertain significance
rs75029337722:24,108,392T/C—uncertain significance
rs119819967922:24,108,393C/T—uncertain significance
rs13818327422:24,108,394C/T—likely benign
rs143803415522:24,108,397G/C—uncertain significance
rs88948970122:24,108,401T/G—uncertain significance
rs118102828322:24,108,402G/A—uncertain significance
rs136534607122:24,108,411C/T—uncertain significance
rs915322:24,108,412A/G—uncertain significance
rs214592435822:24,108,416G/A—uncertain significance
rs56221205122:24,108,417C/T—uncertain significance
rs52773736022:24,108,418G/A—likely benign
rs77678153522:24,108,422G/A—uncertain significance
rs134834055722:24,108,437G/C—uncertain significance
rs11167772422:24,108,438G/T—benign
rs134826315922:24,108,440T/G—likely benign
rs192679874622:24,108,441G/A—uncertain significance
rs125249677422:24,108,448A/T—conflicting classifications of pathogenicity
rs37435397322:24,108,450C/T—conflicting classifications of pathogenicity
rs77377241622:24,108,451G/T—uncertain significance
rs251761814422:24,108,453G/T—uncertain significance
rs76138305122:24,108,454G/A—likely benign
rs76730103922:24,108,456T/G—likely benign
rs192680431422:24,108,457G/A—likely benign
rs56446929422:24,108,461G/T—uncertain significance
rs192680668422:24,108,462C/A—uncertain significance
rs86752156422:24,108,465G/C—uncertain significance
rs102113034422:24,108,466G/C—uncertain significance
rs75005628022:24,108,467G/A—likely benign
rs53309523622:24,108,469G/A—likely benign
rs129388324922:24,108,473A/T—uncertain significance
rs141945034022:24,108,476G/A—likely benign
rs138976664622:24,108,480G/A—likely benign
rs129768029722:24,108,490G/A—likely benign
rs19234688722:24,108,619G/A—likely benign
rs960818122:24,108,701G/A—benign
rs57125033822:24,108,732C/T—likely benign
rs13144122:24,108,756T/C—benign
rs7339654822:24,109,285A/G—benign
rs7339654922:24,109,409C/T—benign
rs13144322:24,109,462C/T—benign
rs75494018422:24,109,544T/C—likely benign
rs13144422:24,109,550T/C—benign
rs78139394722:24,109,551C/G—likely benign
rs74602807322:24,109,552G/T—likely benign
rs214592662222:24,109,554T/C—likely benign
rs251762175922:24,109,563G/A—uncertain significance
rs251762182122:24,109,572C/G—uncertain significance
rs77004382122:24,109,578G/A—uncertain significance
rs192691986322:24,109,581A/G—uncertain significance
rs77533289522:24,109,583G/Amissense variantuncertain significance
rs155592585522:24,109,587C/T—uncertain significance
rs11152794022:24,109,588C/T—likely benign
rs133357906222:24,109,589G/A—uncertain significance
rs251762191522:24,109,591G/A—likely benign
rs37087255622:24,109,593T/C—likely benign
rs76144256722:24,109,594C/A—likely benign
rs76706960622:24,109,598C/T—conflicting classifications of pathogenicity
rs102850613222:24,109,599C/T—uncertain significance

Showing 100 of 192 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.