CHAT

choline O-acetyltransferase

Summary

This gene encodes an enzyme which catalyzes the biosynthesis of the neurotransmitter acetylcholine. This gene product is a characteristic feature of cholinergic neurons, and changes in these neurons may explain some of the symptoms of Alzheimer's disease. Polymorphisms in this gene have been associated with Alzheimer's disease and mild cognitive impairment. Mutations in this gene are associated with congenital myasthenic syndrome associated with episodic apnea. Multiple transcript variants encoding different isoforms have been found for this gene, and some of these variants have been shown to encode more than one isoform. [provided by RefSeq, May 2010]

Known Variants802 total

rsidPosition (GRCh37)AllelesClassClinVar
rs88583410:50,815,512G/Aregulatory region variant—
rs73372210:50,816,943C/Tupstream gene variant—
rs14247196510:50,817,008A/C—benign
rs105751766510:50,819,343G/Cmissense variantuncertain significance
rs213268694110:50,819,447A/G—uncertain significance
rs183829586110:50,819,565T/A—uncertain significance
rs105751766610:50,819,978G/Cmissense variantpathogenic
rs372949610:50,821,191T/G—benign
rs1085751710:50,821,834T/G—benign
rs817898410:50,822,016C/G—benign
rs790331510:50,822,192G/C—benign
rs7715249610:50,822,219G/A—benign
rs792371610:50,822,226T/G—benign
rs134835277710:50,822,253G/A—likely benign
rs144470707510:50,822,259G/T—uncertain significance
rs58778031410:50,822,260A/G—uncertain significance
rs105630274510:50,822,261G/A—uncertain significance
rs137620364910:50,822,262G/A—likely benign
rs52847979910:50,822,265G/A—likely benign
rs144484890610:50,822,268T/C—likely benign
rs77074978910:50,822,270G/A—uncertain significance
rs183838801810:50,822,278G/A—uncertain significance
rs77879590510:50,822,280G/A—likely benign
rs123722022910:50,822,289G/A—likely benign
rs183838939710:50,822,290A/G—uncertain significance
rs249628655910:50,822,317A/G—uncertain significance
rs74575312410:50,822,319G/T—uncertain significance
rs77202558810:50,822,320A/Tstop gainedpathogenic
rs183839097310:50,822,321G/A—uncertain significance
rs100575595910:50,822,326G/A—uncertain significance
rs101628327310:50,822,327T/A—uncertain significance
rs139990398510:50,822,328G/C—likely benign
rs146410319610:50,822,329C/T—uncertain significance
rs100493317110:50,822,339G/A—uncertain significance
rs136447069510:50,822,346C/T—likely benign
rs74654086610:50,822,349G/C—likely benign
rs76817928510:50,822,352G/C—likely benign
rs77641137710:50,822,354G/T—conflicting classifications of pathogenicity
rs249628699010:50,822,355T/C—likely benign
rs144134717710:50,822,357G/A—uncertain significance
rs119272146710:50,822,361C/T—likely benign
rs142317783410:50,822,362G/A—uncertain significance
rs95423620110:50,822,370G/C—likely benign
rs183839461210:50,822,373C/A—likely benign
rs381094810:50,822,376C/G—benign
rs127507766710:50,822,385C/A—likely benign
rs128622298010:50,822,391C/T—likely benign
rs96833110510:50,822,392G/A—uncertain significance
rs121561531810:50,822,394G/A—likely benign
rs103538088510:50,822,401G/C—uncertain significance
rs137844712310:50,822,403C/A—likely benign
rs57200217410:50,822,409C/A—benign
rs76691684410:50,822,411C/T—uncertain significance
rs141079182010:50,822,412C/T—likely benign
rs95973979110:50,822,413C/T—uncertain significance
rs99124471610:50,822,415C/T—likely benign
rs92397196910:50,822,416C/A—uncertain significance
rs143440743010:50,822,421C/T—likely benign
rs249628779110:50,822,423C/T—uncertain significance
rs102279964810:50,822,431C/A—uncertain significance
rs123043388910:50,822,433C/T—likely benign
rs97868444410:50,822,436C/T—likely benign
rs92455460610:50,822,440C/A—uncertain significance
rs128384020410:50,822,441C/A—uncertain significance
rs149076440110:50,822,442C/T—likely benign
rs118085560510:50,822,447C/A—uncertain significance
rs249628830010:50,822,454C/T—likely benign
rs155480141810:50,822,455A/G—uncertain significance
rs126827310310:50,822,456C/T—uncertain significance
rs76760002910:50,822,457C/T—likely benign
rs86697549510:50,822,459C/T—uncertain significance
rs91640262110:50,822,460C/A—likely benign
rs183840222010:50,822,463C/G—likely benign
rs115885029910:50,822,465A/G—uncertain significance
rs121750061810:50,822,467A/C—uncertain significance
rs75634805810:50,822,473G/C—uncertain significance
rs138955148010:50,822,475G/A—likely benign
rs138466132310:50,822,478G/A—conflicting classifications of pathogenicity
rs133048458310:50,822,479T/G—uncertain significance
rs140915468110:50,822,481C/A—uncertain significance
rs133879848010:50,822,485G/T—uncertain significance
rs11207933610:50,822,487A/C—likely benign
rs156446907410:50,822,489C/G—uncertain significance
rs249628882910:50,822,490G/A—likely benign
rs77863646810:50,822,493G/A—likely benign
rs136155168710:50,822,496C/G—likely benign
rs249628900210:50,822,508G/A—likely benign
rs37229855510:50,822,510C/G—conflicting classifications of pathogenicity
rs74566514010:50,822,511G/A—likely benign
rs145823092110:50,822,514G/C—uncertain significance
rs183840582210:50,822,515A/G—uncertain significance
rs213269541810:50,822,517A/G—likely benign
rs142933952310:50,822,518G/T—uncertain significance
rs97711752410:50,822,519C/A—uncertain significance
rs249628917810:50,822,522G/T—uncertain significance
rs213269552810:50,822,533G/T—likely benign
rs136819469610:50,822,534G/A—likely benign
rs249628931810:50,822,537G/A—likely benign
rs53356099610:50,822,600C/T—likely benign
rs817898610:50,823,830G/A—benign

Showing 100 of 802 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.