RYR1

ryanodine receptor 1

Pharmacogene

Summary

This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Known Variants7,323 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs121918596	19:38,499,644	TGGA/T	inframe insertion	—
rs1972249896	19:38,923,902	T/C	—	uncertain significance
rs76751392	19:38,924,039	C/A	—	likely benign
rs142610932	19:38,924,068	C/T	—	likely benign
rs114672599	19:38,924,156	A/G	—	likely benign
rs7256843	19:38,924,172	A/T	—	likely benign
rs1972297039	19:38,924,352	G/A	—	uncertain significance
rs4632259	19:38,924,362	T/C	—	benign
rs190259953	19:38,924,368	C/T	—	likely benign
rs886054375	19:38,924,396	A/C	—	uncertain significance
rs886054377	19:38,924,401	T/G	—	uncertain significance
rs1204515719	19:38,924,405	G/C	—	uncertain significance
rs1192726936	19:38,924,409	A/C	—	uncertain significance
rs886038309	19:38,924,433	C/G	—	likely benign
rs375755030	19:38,924,439	C/T	—	uncertain significance
rs2513928864	19:38,924,472	G/C	—	uncertain significance
rs886054378	19:38,924,474	G/C	—	uncertain significance
rs2513929023	19:38,924,490	A/G	—	likely benign
rs1331891798	19:38,924,493	C/A	—	uncertain significance
rs1600608864	19:38,924,502	G/A	—	likely benign
rs370115856	19:38,924,503	T/C	—	uncertain significance
rs2145288960	19:38,924,505	C/G	—	uncertain significance
rs193922744	19:38,924,507	T/G	—	likely pathogenic
rs200665559	19:38,924,509	C/T	—	uncertain significance
rs2145289038	19:38,924,511	G/C	—	likely benign
rs200117623	19:38,924,514	G/A	—	uncertain significance
rs2513929213	19:38,924,515	G/A	—	likely pathogenic
rs1230846317	19:38,924,520	T/C	—	uncertain significance
rs1972310142	19:38,924,523	C/T	—	likely benign
rs2513929320	19:38,924,533	G/C	—	likely benign
rs2513929343	19:38,924,534	G/T	—	likely benign
rs142207522	19:38,924,546	C/A	—	benign
rs79912670	19:38,924,635	A/G	—	benign
rs919781	19:38,924,814	T/C	—	benign
rs770059926	19:38,931,365	G/A	—	likely benign
rs2513956062	19:38,931,367	T/C	—	likely benign
rs2513956083	19:38,931,369	C/A	—	likely benign
rs764370319	19:38,931,374	C/T	—	likely benign
rs1972632890	19:38,931,375	G/A	—	uncertain significance
rs2145320130	19:38,931,376	G/A	—	likely benign
rs774388278	19:38,931,380	C/T	—	likely benign
rs201094741	19:38,931,381	G/A	—	conflicting classifications of pathogenicity
rs1238479593	19:38,931,384	G/A	—	likely pathogenic
rs2513956227	19:38,931,386	A/G	—	uncertain significance
rs750329137	19:38,931,387	C/T	—	likely benign
rs755878800	19:38,931,388	G/A	—	uncertain significance
rs1389217484	19:38,931,393	G/A	—	likely benign
rs2513956289	19:38,931,395	T/C	—	uncertain significance
rs913061393	19:38,931,397	G/A	—	uncertain significance
rs766073662	19:38,931,399	C/T	—	likely benign
rs2513956311	19:38,931,402	G/C	—	likely benign
rs753752475	19:38,931,405	G/A	—	likely benign
rs754645461	19:38,931,411	C/T	—	conflicting classifications of pathogenicity
rs778758225	19:38,931,412	G/A	—	uncertain significance
rs1972635177	19:38,931,415	A/C	—	uncertain significance
rs372508199	19:38,931,417	C/T	—	likely benign
rs143481004	19:38,931,418	G/A	—	conflicting classifications of pathogenicity
rs2145320410	19:38,931,420	G/A	—	likely benign
rs1242495143	19:38,931,421	C/T	—	uncertain significance
rs781676755	19:38,931,423	C/T	—	likely benign
rs1240489600	19:38,931,424	A/G	—	uncertain significance
rs145771708	19:38,931,428	A/T	—	conflicting classifications of pathogenicity
rs2513956576	19:38,931,431	A/G	—	uncertain significance
rs1482747444	19:38,931,432	G/A	—	likely benign
rs138630815	19:38,931,433	C/T	—	conflicting classifications of pathogenicity
rs193922746	19:38,931,436	A/G	missense variant	pathogenic
rs2513956642	19:38,931,437	A/G	—	uncertain significance
rs1481959610	19:38,931,439	C/G	—	uncertain significance
rs193922747	19:38,931,442	T/C	missense variant	pathogenic
rs142909076	19:38,931,450	C/T	—	likely benign
rs377558801	19:38,931,451	G/T	—	uncertain significance
rs150794120	19:38,931,453	C/T	—	likely benign
rs539201276	19:38,931,454	G/A	—	uncertain significance
rs1600630863	19:38,931,455	A/G	—	uncertain significance
rs2145320724	19:38,931,458	G/C	—	uncertain significance
rs2513956836	19:38,931,459	C/T	—	likely benign
rs766407858	19:38,931,461	T/C	—	conflicting classifications of pathogenicity
rs753672925	19:38,931,462	C/T	—	likely benign
rs759417601	19:38,931,463	G/C	—	uncertain significance
rs1972639264	19:38,931,464	G/A	—	uncertain significance
rs1600630942	19:38,931,467	A/C	—	likely pathogenic
rs193922748	19:38,931,469	C/T	missense variant	pathogenic
rs139161723	19:38,931,470	G/C	missense variant	pathogenic
rs1972639888	19:38,931,472	C/G	—	uncertain significance
rs1217945877	19:38,931,473	T/C	—	uncertain significance
rs554528443	19:38,931,489	C/G	—	likely benign
rs193922749	19:38,931,491	C/A	—	uncertain significance
rs751118259	19:38,931,492	T/C	—	likely benign
rs2145321042	19:38,931,495	C/G	—	uncertain significance
rs780591516	19:38,931,498	C/A	—	uncertain significance
rs1032364286	19:38,931,500	C/T	—	uncertain significance
rs769042961	19:38,931,501	G/A	—	likely benign
rs779061307	19:38,931,502	C/T	—	pathogenic
rs1388577237	19:38,931,505	G/A	—	conflicting classifications of pathogenicity
rs371043203	19:38,931,509	G/T	—	uncertain significance
rs772380427	19:38,931,511	G/T	—	likely benign
rs2513957238	19:38,931,512	C/T	—	likely benign
rs2513957276	19:38,931,514	G/A	—	likely benign
rs770935346	19:38,931,519	G/C	—	likely benign
rs776713134	19:38,931,524	G/A	—	likely benign

Showing 100 of 7,323 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.