CHRND

cholinergic receptor nicotinic delta subunit

Summary

The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Defects in this gene are a cause of multiple pterygium syndrome lethal type (MUPSL), congenital myasthenic syndrome slow-channel type (SCCMS), and congenital myasthenic syndrome fast-channel type (FCCMS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]

Known Variants463 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs554826646	2:233,389,065	G/T	missense variant	likely benign
rs730882162	2:233,389,959	G/C	missense variant	likely pathogenic
rs61744404	2:233,390,199	C/G	missense variant	benign
rs75180050	2:233,390,532	T/G	—	likely benign
rs547149375	2:233,390,705	C/T	—	benign
rs750174953	2:233,390,927	T/C	—	pathogenic
rs2106205606	2:233,390,933	G/C	—	uncertain significance
rs2245601	2:233,390,937	G/A	—	benign
rs1691455448	2:233,390,938	G/T	—	uncertain significance
rs1691455697	2:233,390,944	A/C	—	uncertain significance
rs554645326	2:233,390,952	G/C	—	conflicting classifications of pathogenicity
rs2469712477	2:233,390,954	T/C	—	uncertain significance
rs1235166420	2:233,390,956	C/T	—	likely benign
rs1691456942	2:233,390,959	G/A	—	uncertain significance
rs1574627111	2:233,390,966	T/G	—	uncertain significance
rs746207666	2:233,390,967	G/C	—	likely benign
rs142531974	2:233,390,969	C/T	—	conflicting classifications of pathogenicity
rs138609765	2:233,390,970	G/A	—	conflicting classifications of pathogenicity
rs2106205676	2:233,390,978	G/A	—	likely pathogenic
rs1301307735	2:233,390,983	G/A	—	uncertain significance
rs1388167579	2:233,390,984	G/A	—	uncertain significance
rs761751167	2:233,390,992	C/A	—	likely benign
rs967873665	2:233,390,995	C/A	—	likely benign
rs776242631	2:233,391,223	C/T	—	likely benign
rs372385617	2:233,391,224	G/A	—	likely benign
rs764374927	2:233,391,245	G/A	—	pathogenic
rs1691474796	2:233,391,254	A/T	—	uncertain significance
rs144310284	2:233,391,256	G/A	—	conflicting classifications of pathogenicity
rs2469713435	2:233,391,258	G/C	—	uncertain significance
rs797044480	2:233,391,259	G/T	stop gained	pathogenic
rs200921489	2:233,391,265	C/T	—	uncertain significance
rs143002322	2:233,391,266	G/A	—	uncertain significance
rs1323332117	2:233,391,270	G/A	—	likely benign
rs1047325384	2:233,391,274	C/T	—	uncertain significance
rs142992853	2:233,391,275	G/A	—	uncertain significance
rs2469713507	2:233,391,281	T/C	—	uncertain significance
rs1574627606	2:233,391,282	G/T	—	likely benign
rs780478522	2:233,391,288	A/C	—	uncertain significance
rs2469713548	2:233,391,293	A/G	—	uncertain significance
rs2106206094	2:233,391,294	G/A	—	likely benign
rs77084550	2:233,391,303	C/G	—	benign
rs1475752234	2:233,391,304	A/G	—	uncertain significance
rs55921262	2:233,391,306	A/G	—	benign
rs55868108	2:233,391,313	C/T	missense variant	pathogenic
rs759448201	2:233,391,314	G/A	—	uncertain significance
rs765106484	2:233,391,315	G/A	—	likely benign
rs774771779	2:233,391,318	C/T	—	likely benign
rs372310402	2:233,391,319	G/A	—	uncertain significance
rs1085307559	2:233,391,322	G/A	—	uncertain significance
rs903530183	2:233,391,326	A/T	—	uncertain significance
rs767640700	2:233,391,331	G/A	—	uncertain significance
rs750414566	2:233,391,332	A/C	—	uncertain significance
rs1278901518	2:233,391,334	G/A	—	uncertain significance
rs1064795246	2:233,391,340	G/A	—	uncertain significance
rs1260266473	2:233,391,341	T/A	—	uncertain significance
rs550396498	2:233,391,344	A/G	—	uncertain significance
rs370725931	2:233,391,345	C/T	—	likely benign
rs369869476	2:233,391,346	G/A	—	conflicting classifications of pathogenicity
rs1553573832	2:233,391,353	T/C	—	uncertain significance
rs2469713785	2:233,391,356	C/T	—	uncertain significance
rs752410720	2:233,391,358	C/T	—	uncertain significance
rs757920150	2:233,391,360	C/A	—	likely benign
rs200743096	2:233,391,364	C/G	—	uncertain significance
rs1461286258	2:233,391,366	C/T	—	likely benign
rs2106206284	2:233,391,373	C/A	—	uncertain significance
rs121909508	2:233,391,374	T/C	missense variant	pathogenic
rs372767822	2:233,391,391	G/A	—	likely benign
rs1313366425	2:233,391,397	C/G	—	likely benign
rs199538903	2:233,391,398	C/T	—	conflicting classifications of pathogenicity
rs764503079	2:233,391,399	G/A	—	likely benign
rs2278478	2:233,391,463	A/G	—	benign
rs4973536	2:233,391,881	G/C	—	benign
rs4973537	2:233,391,965	A/G	—	benign
rs145984749	2:233,392,092	C/T	—	benign
rs780019150	2:233,392,098	C/T	—	likely benign
rs937840228	2:233,392,099	G/A	—	likely benign
rs2106207309	2:233,392,103	A/G	—	likely benign
rs1691518594	2:233,392,130	T/C	—	uncertain significance
rs146508326	2:233,392,137	C/G	—	likely benign
rs200755491	2:233,392,138	A/G	—	uncertain significance
rs1359359801	2:233,392,143	G/A	—	likely benign
rs121909505	2:233,392,146	G/A	stop gained	pathogenic
rs121909509	2:233,392,148	T/C	missense variant	uncertain significance
rs121909504	2:233,392,150	G/A	missense variant	pathogenic
rs115841867	2:233,392,155	C/T	—	likely benign
rs751237539	2:233,392,156	G/A	—	likely pathogenic
rs1015689711	2:233,392,164	G/A	—	likely benign
rs111310313	2:233,392,220	C/T	—	likely benign
rs62193797	2:233,392,268	A/C	—	benign
rs145771264	2:233,392,281	C/T	—	likely benign
rs3762529	2:233,392,449	G/A	—	benign
rs2469717903	2:233,392,954	A/T	—	likely benign
rs2469717950	2:233,392,969	C/T	—	uncertain significance
rs794727630	2:233,392,972	G/A	—	uncertain significance
rs2106208285	2:233,392,976	G/A	—	pathogenic
rs146905561	2:233,392,983	C/A	—	uncertain significance
rs375883569	2:233,392,987	C/T	—	uncertain significance
rs201264983	2:233,392,988	G/A	—	uncertain significance
rs180971628	2:233,392,990	C/G	—	uncertain significance
rs1029592483	2:233,392,992	G/C	—	likely benign

Showing 100 of 463 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.