RYR3

ryanodine receptor 3

Summary

The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes. For example, the encoded protein is involved in skeletal muscle contraction by releasing calcium from the sarcoplasmic reticulum followed by depolarization of T-tubules. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

Known Variants1,499 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs375998723	15:33,603,257	G/C	—	conflicting classifications of pathogenicity
rs763416818	15:33,603,259	G/A	—	uncertain significance
rs771419772	15:33,603,260	G/A	—	uncertain significance
rs1453652852	15:33,603,261	A/G	—	likely benign
rs562147027	15:33,603,263	A/G	—	conflicting classifications of pathogenicity
rs534586557	15:33,603,269	G/A	—	uncertain significance
rs761390620	15:33,603,276	C/A	—	uncertain significance
rs1595668424	15:33,603,292	A/C	—	likely benign
rs1595668505	15:33,603,306	C/T	—	likely benign
rs752692253	15:33,765,625	T/C	—	likely benign
rs199968653	15:33,765,646	C/T	—	likely benign
rs201612485	15:33,765,647	G/A	—	uncertain significance
rs374964000	15:33,765,648	C/A	—	uncertain significance
rs1596294514	15:33,765,688	C/T	—	likely benign
rs770423247	15:33,765,704	C/T	—	uncertain significance
rs774050928	15:33,765,705	G/A	—	uncertain significance
rs80182654	15:33,765,715	C/T	—	likely benign
rs771903948	15:33,765,728	T/G	—	uncertain significance
rs372207437	15:33,765,729	C/T	—	uncertain significance
rs1395303451	15:33,795,838	C/G	—	uncertain significance
rs761781474	15:33,795,851	G/A	—	uncertain significance
rs769694918	15:33,795,852	C/T	—	likely benign
rs572913737	15:33,795,853	G/A	—	uncertain significance
rs781479912	15:33,795,882	A/G	—	likely benign
rs776514533	15:33,795,894	C/A	—	likely benign
rs2052208538	15:33,795,911	C/T	—	uncertain significance
rs756571013	15:33,795,924	A/C	—	uncertain significance
rs372479066	15:33,795,930	C/T	—	likely benign
rs745418555	15:33,795,931	G/A	—	uncertain significance
rs375622890	15:33,795,933	C/T	—	likely benign
rs369222777	15:33,795,934	G/A	—	likely benign
rs1391569161	15:33,795,947	C/G	—	likely benign
rs3751634	15:33,795,950	G/A	—	benign
rs375322559	15:33,822,781	T/C	—	likely benign
rs2304386	15:33,822,786	C/G	—	benign
rs775657710	15:33,822,788	C/T	—	likely benign
rs764425213	15:33,822,795	A/G	—	likely benign
rs757712511	15:33,822,800	A/G	—	uncertain significance
rs760794454	15:33,822,801	A/G	—	likely benign
rs1188249908	15:33,822,810	C/T	—	likely benign
rs751132721	15:33,822,815	G/A	—	uncertain significance
rs537373426	15:33,822,828	C/T	—	likely benign
rs371821413	15:33,822,852	C/T	—	likely benign
rs374563732	15:33,822,861	C/T	—	likely benign
rs368972337	15:33,822,862	G/A	—	uncertain significance
rs2141046682	15:33,822,871	A/G	—	uncertain significance
rs1485242342	15:33,822,872	G/A	—	uncertain significance
rs1555515067	15:33,825,520	A/G	—	likely benign
rs768108583	15:33,825,549	A/G	—	uncertain significance
rs183923528	15:33,825,550	C/A	—	uncertain significance
rs374959679	15:33,825,575	C/T	—	uncertain significance
rs201243902	15:33,831,546	T/C	—	benign
rs780128168	15:33,831,571	A/T	—	uncertain significance
rs947773003	15:33,831,615	A/C	—	likely benign
rs770203359	15:33,831,628	C/T	—	uncertain significance
rs773675905	15:33,831,636	C/T	—	likely benign
rs377624442	15:33,831,643	G/A	—	uncertain significance
rs375082087	15:33,832,987	T/C	—	likely benign
rs1595509178	15:33,832,997	C/G	—	likely benign
rs761547558	15:33,833,001	G/A	—	uncertain significance
rs2055756292	15:33,833,006	A/C	—	likely benign
rs762795498	15:33,833,010	G/A	—	uncertain significance
rs2141149139	15:33,833,016	A/G	—	uncertain significance
rs1296124289	15:33,833,023	T/G	—	uncertain significance
rs139577597	15:33,833,037	A/G	—	uncertain significance
rs370200639	15:33,833,066	G/A	—	likely benign
rs746548925	15:33,833,070	T/C	—	uncertain significance
rs1467070057	15:33,833,084	C/G	—	uncertain significance
rs200724716	15:33,835,824	A/G	—	likely benign
rs1164929999	15:33,835,839	G/A	—	likely benign
rs370938489	15:33,835,850	G/A	—	uncertain significance
rs982194939	15:33,835,859	A/G	—	uncertain significance
rs1353581080	15:33,835,864	C/G	—	uncertain significance
rs775300751	15:33,835,873	T/C	—	uncertain significance
rs760619857	15:33,835,879	A/G	—	uncertain significance
rs534756978	15:33,835,880	C/T	—	uncertain significance
rs966003933	15:33,835,884	A/G	—	uncertain significance
rs766700534	15:33,835,896	C/A	—	uncertain significance
rs538703172	15:33,835,901	A/G	—	likely benign
rs78474432	15:33,838,412	A/G	intron variant	—
rs765304371	15:33,840,324	C/A	—	likely benign
rs2056388979	15:33,840,327	A/C	—	likely benign
rs977071011	15:33,840,352	G/A	—	likely benign
rs1555522270	15:33,840,356	G/A	—	uncertain significance
rs1305468510	15:33,840,363	C/T	—	uncertain significance
rs751973008	15:33,840,365	C/T	—	uncertain significance
rs752846417	15:33,840,366	G/A	—	uncertain significance
rs758671481	15:33,840,379	T/G	—	likely benign
rs753191794	15:33,840,398	C/T	—	uncertain significance
rs756729023	15:33,840,399	G/A	—	uncertain significance
rs991186397	15:33,840,411	G/A	—	uncertain significance
rs1435100	15:33,840,414	A/G	—	benign
rs2056571810	15:33,842,366	G/T	—	uncertain significance
rs749997491	15:33,842,370	C/T	—	likely benign
rs897878116	15:33,842,376	C/T	—	likely benign
rs757815967	15:33,842,380	A/G	—	uncertain significance
rs2056574150	15:33,842,385	G/A	—	uncertain significance
rs41279202	15:33,842,400	A/T	—	benign
rs373319826	15:33,842,404	C/T	—	uncertain significance
rs553041018	15:33,842,405	G/A	—	uncertain significance

Showing 100 of 1,499 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.