CHRNA5
cholinergic receptor nicotinic alpha 5 subunit
Summary
The protein encoded by this gene is a nicotinic acetylcholine receptor subunit and a member of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. These receptors are thought to be heteropentamers composed of separate but similar subunits. Defects in this gene have been linked to susceptibility to lung cancer type 2 (LNCR2).[provided by RefSeq, Jun 2010]
Known Variants64 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3829787 | 15:78,856,266 | C/T | upstream gene variant | — |
| rs503464 | 15:78,857,896 | T/A | regulatory region variant | — |
| rs55853698 | 15:78,857,939 | T/G | regulatory region variant | — |
| rs55781567 | 15:78,857,986 | C/G | regulatory region variant | — |
| rs997031085 | 15:78,858,078 | C/T | — | uncertain significance |
| rs534031880 | 15:78,858,115 | G/A | — | benign |
| rs1393430909 | 15:78,858,141 | C/T | — | uncertain significance |
| rs961390206 | 15:78,858,148 | G/A | — | likely benign |
| rs555177593 | 15:78,858,154 | C/T | — | benign |
| rs684513 | 15:78,858,400 | C/T | — | — |
| rs190065944 | 15:78,859,610 | G/C | — | — |
| rs11633958 | 15:78,862,064 | C/A | — | — |
| rs7172118 | 15:78,862,453 | C/T | — | — |
| rs664172 | 15:78,862,762 | G/T | — | — |
| rs667282 | 15:78,863,472 | T/C | intron variant | — |
| rs17486195 | 15:78,865,197 | A/G | intron variant | — |
| rs588765 | 15:78,865,425 | T/A | — | — |
| rs6495306 | 15:78,865,893 | G/T | — | — |
| rs140330585 | 15:78,866,445 | G/A | intron variant | — |
| rs17486278 | 15:78,867,482 | A/C | regulatory region variant | — |
| rs601079 | 15:78,869,579 | T/C | — | — |
| rs495956 | 15:78,869,930 | C/A | — | — |
| rs576982 | 15:78,870,803 | C/G | — | — |
| rs680244 | 15:78,871,288 | T/C | intron variant | — |
| rs569207 | 15:78,873,119 | C/G | — | — |
| rs201040941 | 15:78,873,213 | A/T | — | uncertain significance |
| rs79835149 | 15:78,873,220 | C/T | — | benign |
| rs773931755 | 15:78,873,292 | A/G | — | likely benign |
| rs760430286 | 15:78,873,302 | G/T | — | uncertain significance |
| rs637137 | 15:78,873,976 | T/A | intron variant | — |
| rs7180002 | 15:78,873,993 | A/T | intron variant | — |
| rs11637635 | 15:78,877,150 | A/T | — | — |
| rs56390833 | 15:78,877,381 | C/A | downstream gene variant | — |
| rs951266 | 15:78,878,541 | G/T | — | — |
| rs145388600 | 15:78,878,650 | T/A | downstream gene variant | — |
| rs555018 | 15:78,879,242 | G/C | — | — |
| rs2542776288 | 15:78,880,560 | C/A | — | uncertain significance |
| rs12898919 | 15:78,880,577 | G/C | downstream gene variant | — |
| rs17408276 | 15:78,881,618 | T/C | coding sequence variant | — |
| rs67896919 | 15:78,882,100 | T/C | coding sequence variant | — |
| rs1374967801 | 15:78,882,184 | G/A | — | uncertain significance |
| rs80087508 | 15:78,882,233 | A/G | — | benign |
| rs780615731 | 15:78,882,257 | C/T | — | uncertain significance |
| rs779298057 | 15:78,882,320 | C/T | — | uncertain significance |
| rs754813352 | 15:78,882,434 | G/A | — | uncertain significance |
| rs61742337 | 15:78,882,446 | C/T | — | likely benign |
| rs145794252 | 15:78,882,522 | G/T | — | likely benign |
| rs2542780335 | 15:78,882,590 | C/A | — | uncertain significance |
| rs147498556 | 15:78,882,596 | T/A | — | uncertain significance |
| rs2542780623 | 15:78,882,685 | G/C | — | uncertain significance |
| rs867013198 | 15:78,882,725 | C/T | — | uncertain significance |
| rs61740655 | 15:78,882,726 | C/T | — | benign |
| rs201385812 | 15:78,882,791 | G/A | — | uncertain significance |
| rs79721430 | 15:78,882,809 | C/T | — | likely benign |
| rs79109919 | 15:78,882,821 | T/A | — | benign |
| rs201916656 | 15:78,882,871 | A/T | — | uncertain significance |
| rs140785516 | 15:78,882,906 | C/T | — | benign |
| rs2542781307 | 15:78,882,922 | C/T | — | uncertain significance |
| rs150108684 | 15:78,882,924 | C/T | — | benign |
| rs16969968 | 15:78,882,925 | G/A | missense variant | risk factor |
| rs76766434 | 15:78,882,934 | C/T | — | likely benign |
| rs72648879 | 15:78,883,086 | C/T | coding sequence variant | — |
| rs367546696 | 15:78,885,500 | G/C | — | uncertain significance |
| rs2542791406 | 15:78,886,342 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.