CHRM3
cholinergic receptor muscarinic 3
Summary
The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 3 controls smooth muscle contraction and its stimulation causes secretion of glandular tissue. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]
Known Variants82 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs6677208 | 1:239,601,969 | A/C | intron variant | — |
| rs12118522 | 1:239,643,848 | T/G | intron variant | — |
| rs13373941 | 1:239,644,171 | T/G | intron variant | — |
| rs2148424892 | 1:239,711,563 | G/A | — | uncertain significance |
| rs2355230 | 1:239,785,165 | C/A | intron variant | — |
| rs2165870 | 1:239,785,420 | A/G | intron variant | — |
| rs10802789 | 1:239,832,680 | C/A | — | — |
| rs6429153 | 1:239,858,725 | A/C | intron variant | — |
| rs7511970 | 1:239,883,255 | G/A | upstream gene variant | — |
| rs11579382 | 1:239,901,006 | G/C | intron variant | — |
| rs11578320 | 1:239,906,616 | T/C | intron variant | — |
| rs685550 | 1:239,924,408 | G/C | — | — |
| rs12059546 | 1:239,970,097 | A/G | intron variant | — |
| rs6690809 | 1:239,974,006 | G/T | — | — |
| rs6429157 | 1:239,981,643 | A/T | — | — |
| rs7548522 | 1:239,998,625 | C/T | intron variant | — |
| rs12036147 | 1:239,998,713 | A/T | intron variant | — |
| rs536477 | 1:240,045,908 | A/G | intron variant | — |
| rs4620530 | 1:240,063,821 | T/G | upstream gene variant | — |
| rs7520974 | 1:240,067,260 | G/A | upstream gene variant | — |
| rs3738435 | 1:240,070,603 | C/T | — | benign |
| rs142160521 | 1:240,070,760 | G/A | — | likely benign |
| rs140378182 | 1:240,070,763 | C/T | — | likely benign |
| rs760532849 | 1:240,070,780 | C/T | — | uncertain significance |
| rs367791242 | 1:240,070,843 | C/G | — | uncertain significance |
| rs771480057 | 1:240,070,844 | G/A | — | likely benign |
| rs2528308530 | 1:240,070,872 | A/G | — | uncertain significance |
| rs201425358 | 1:240,070,882 | G/A | — | uncertain significance |
| rs149077005 | 1:240,070,910 | C/T | — | benign |
| rs141951495 | 1:240,070,943 | C/T | — | likely benign |
| rs2067481 | 1:240,070,944 | G/A | — | benign |
| rs764345192 | 1:240,070,965 | G/A | — | uncertain significance |
| rs1680087846 | 1:240,071,034 | G/A | — | uncertain significance |
| rs111407169 | 1:240,071,079 | C/T | — | likely benign |
| rs1680093659 | 1:240,071,103 | G/A | — | pathogenic |
| rs764620396 | 1:240,071,120 | T/C | — | likely benign |
| rs1572658612 | 1:240,071,135 | C/T | — | likely benign |
| rs754525978 | 1:240,071,166 | T/C | — | likely benign |
| rs2528313917 | 1:240,071,201 | A/T | — | likely benign |
| rs777700262 | 1:240,071,264 | G/C | — | likely benign |
| rs929457862 | 1:240,071,309 | T/C | — | likely benign |
| rs202207074 | 1:240,071,342 | T/G | — | uncertain significance |
| rs199549014 | 1:240,071,432 | T/C | — | likely benign |
| rs1572659606 | 1:240,071,553 | C/T | — | likely benign |
| rs1176326112 | 1:240,071,603 | G/A | — | likely benign |
| rs147784522 | 1:240,071,648 | C/T | — | likely benign |
| rs201132730 | 1:240,071,724 | G/A | — | uncertain significance |
| rs149178518 | 1:240,071,768 | C/A | — | uncertain significance |
| rs201087854 | 1:240,071,808 | G/A | — | uncertain significance |
| rs139009806 | 1:240,071,810 | C/T | — | likely benign |
| rs774144467 | 1:240,071,833 | C/T | — | uncertain significance |
| rs113991226 | 1:240,071,834 | G/A | — | benign |
| rs138859152 | 1:240,071,867 | G/A | — | likely benign |
| rs753963231 | 1:240,071,887 | A/C | — | uncertain significance |
| rs141848452 | 1:240,071,888 | C/T | — | likely benign |
| rs139780487 | 1:240,071,903 | C/T | — | likely benign |
| rs780583857 | 1:240,071,908 | C/T | — | uncertain significance |
| rs117817656 | 1:240,071,909 | G/C | — | likely benign |
| rs61744065 | 1:240,071,937 | C/A | — | likely benign |
| rs201160361 | 1:240,071,952 | T/A | — | uncertain significance |
| rs892379527 | 1:240,071,957 | G/A | — | likely benign |
| rs201696651 | 1:240,071,967 | G/A | — | likely benign |
| rs145638222 | 1:240,071,991 | G/A | — | conflicting classifications of pathogenicity |
| rs201501580 | 1:240,071,996 | C/T | — | likely benign |
| rs150946469 | 1:240,072,040 | A/G | — | uncertain significance |
| rs16839102 | 1:240,072,043 | T/C | — | benign |
| rs145865028 | 1:240,072,054 | G/A | — | uncertain significance |
| rs144239896 | 1:240,072,078 | G/A | — | likely benign |
| rs200801228 | 1:240,072,082 | A/C | — | uncertain significance |
| rs140545853 | 1:240,072,103 | C/T | — | uncertain significance |
| rs367860952 | 1:240,072,104 | G/A | — | likely benign |
| rs775730263 | 1:240,072,183 | C/T | — | uncertain significance |
| rs561088185 | 1:240,072,200 | G/A | — | likely benign |
| rs1247175852 | 1:240,072,299 | T/C | — | likely benign |
| rs201554378 | 1:240,072,311 | C/T | — | conflicting classifications of pathogenicity |
| rs201983181 | 1:240,072,322 | C/T | — | uncertain significance |
| rs765946218 | 1:240,072,377 | G/A | — | likely benign |
| rs779263285 | 1:240,072,456 | C/T | — | uncertain significance |
| rs189146647 | 1:240,072,504 | G/A | — | uncertain significance |
| rs200553848 | 1:240,072,509 | C/T | — | likely benign |
| rs201512973 | 1:240,072,517 | C/A | — | uncertain significance |
| rs72760745 | 1:240,072,668 | T/C | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.