CASQ2

calsequestrin 2

Summary

The protein encoded by this gene specifies the cardiac muscle family member of the calsequestrin family. Calsequestrin is localized to the sarcoplasmic reticulum in cardiac and slow skeletal muscle cells. The protein is a calcium binding protein that stores calcium for muscle function. Mutations in this gene cause stress-induced polymorphic ventricular tachycardia, also referred to as catecholaminergic polymorphic ventricular tachycardia 2 (CPVT2), a disease characterized by bidirectional ventricular tachycardia that may lead to cardiac arrest. [provided by RefSeq, Jul 2008]

Known Variants565 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs183297938	1:116,242,655	T/C	—	uncertain significance
rs886045156	1:116,242,810	T/C	—	uncertain significance
rs74520962	1:116,242,839	T/C	—	uncertain significance
rs547458797	1:116,242,933	G/A	—	uncertain significance
rs766012096	1:116,243,207	G/A	—	uncertain significance
rs917180844	1:116,243,226	C/G	—	uncertain significance
rs926002665	1:116,243,288	A/G	—	uncertain significance
rs72554068	1:116,243,359	C/T	—	uncertain significance
rs7521023	1:116,243,380	G/A	downstream gene variant	likely benign
rs375002557	1:116,243,405	G/A	—	uncertain significance
rs758724908	1:116,243,530	T/A	—	uncertain significance
rs563342580	1:116,243,687	A/C	—	conflicting classifications of pathogenicity
rs199955994	1:116,243,824	C/T	—	uncertain significance
rs1251308717	1:116,243,865	T/C	—	likely benign
rs375286334	1:116,243,866	T/G	—	uncertain significance
rs1344875325	1:116,243,867	C/T	—	uncertain significance
rs1654192683	1:116,243,870	C/T	—	uncertain significance
rs1654192735	1:116,243,871	A/G	—	likely benign
rs751885773	1:116,243,874	A/T	—	conflicting classifications of pathogenicity
rs2464830760	1:116,243,875	T/A	—	uncertain significance
rs368007942	1:116,243,876	C/T	—	conflicting classifications of pathogenicity
rs1261690750	1:116,243,878	T/C	—	uncertain significance
rs1390671878	1:116,243,886	G/A	—	likely benign
rs1179094272	1:116,243,889	A/G	—	likely benign
rs1570791816	1:116,243,894	T/C	—	uncertain significance
rs1557783672	1:116,243,895	A/G	—	likely benign
rs747847223	1:116,243,897	C/A	—	uncertain significance
rs1467470359	1:116,243,903	C/T	—	uncertain significance
rs772619751	1:116,243,912	T/C	—	uncertain significance
rs1206628721	1:116,243,913	A/T	—	uncertain significance
rs397516640	1:116,243,914	T/C	—	conflicting classifications of pathogenicity
rs1395773157	1:116,243,916	A/G	—	likely benign
rs2464831115	1:116,243,919	A/G	—	likely benign
rs1474409138	1:116,243,922	A/G	—	likely benign
rs776130201	1:116,243,925	A/C	—	uncertain significance
rs940257382	1:116,243,926	T/A	—	uncertain significance
rs150486780	1:116,243,928	A/T	—	conflicting classifications of pathogenicity
rs148824162	1:116,243,931	T/A	—	conflicting classifications of pathogenicity
rs786205796	1:116,243,935	T/C	—	uncertain significance
rs886045158	1:116,243,941	T/A	—	uncertain significance
rs886045159	1:116,243,942	C/T	—	uncertain significance
rs762153545	1:116,243,965	A/G	—	conflicting classifications of pathogenicity
rs2464831339	1:116,243,970	A/G	—	likely benign
rs1193520667	1:116,243,975	C/T	—	uncertain significance
rs1557783735	1:116,243,977	A/G	—	uncertain significance
rs2464831371	1:116,243,978	T/G	—	uncertain significance
rs1654199242	1:116,243,979	C/T	—	likely pathogenic
rs786205792	1:116,243,980	C/G	missense variant	uncertain significance
rs375811174	1:116,243,981	A/T	—	uncertain significance
rs753872950	1:116,243,988	C/T	—	likely benign
rs1198258106	1:116,243,990	G/A	—	likely benign
rs754889548	1:116,244,003	T/A	—	likely benign
rs200899037	1:116,244,010	T/C	—	uncertain significance
rs267597944	1:116,244,011	C/T	—	uncertain significance
rs758060229	1:116,244,012	G/A	—	likely benign
rs369982880	1:116,244,015	A/G	—	likely benign
rs372865933	1:116,244,016	T/A	—	uncertain significance
rs746635989	1:116,244,021	T/A	—	likely benign
rs575326580	1:116,244,031	A/T	—	uncertain significance
rs1295335060	1:116,244,032	T/A	—	uncertain significance
rs2101052355	1:116,244,033	C/G	—	uncertain significance
rs529562535	1:116,244,034	C/T	—	pathogenic
rs774882087	1:116,244,036	G/A	—	likely benign
rs894946581	1:116,244,041	T/C	—	uncertain significance
rs1654202571	1:116,244,048	C/T	—	uncertain significance
rs375320117	1:116,244,050	G/A	—	conflicting classifications of pathogenicity
rs1654202822	1:116,244,053	G/A	—	likely benign
rs760797081	1:116,244,057	G/A	—	likely benign
rs2464831681	1:116,244,063	A/G	—	likely benign
rs2464831683	1:116,244,067	G/T	—	likely benign
rs80057683	1:116,244,166	C/T	—	benign
rs4614259	1:116,244,298	C/A	—	benign
rs10923210	1:116,245,362	C/T	—	likely benign
rs3934652	1:116,245,381	G/T	—	benign
rs369540921	1:116,245,522	C/A	—	likely benign
rs773428958	1:116,245,526	C/T	—	likely benign
rs1210397585	1:116,245,528	C/T	—	likely benign
rs2464835266	1:116,245,529	A/G	—	likely benign
rs1248543096	1:116,245,531	G/A	—	likely benign
rs2464835285	1:116,245,532	G/A	—	likely benign
rs1654250763	1:116,245,539	C/T	—	uncertain significance
rs1654250819	1:116,245,541	C/T	—	pathogenic
rs137999497	1:116,245,545	T/A	—	likely benign
rs886045160	1:116,245,550	C/T	—	uncertain significance
rs2464835376	1:116,245,557	C/T	—	likely benign
rs763987909	1:116,245,559	C/A	—	uncertain significance
rs2464835386	1:116,245,560	C/T	—	likely benign
rs2101053760	1:116,245,564	A/G	—	uncertain significance
rs767023791	1:116,245,568	G/A	—	pathogenic
rs1396168908	1:116,245,569	T/C	—	likely benign
rs28730713	1:116,245,571	G/A	—	uncertain significance
rs2101053786	1:116,245,575	G/T	—	uncertain significance
rs976749091	1:116,245,577	A/G	—	uncertain significance
rs2464835462	1:116,245,584	A/G	—	likely benign
rs369403991	1:116,245,585	A/G	—	uncertain significance
rs1654254816	1:116,245,590	G/A	—	likely benign
rs200442064	1:116,245,596	C/T	—	likely benign
rs1654255083	1:116,245,597	T/G	—	uncertain significance
rs758803168	1:116,245,599	C/T	—	likely benign
rs2101053815	1:116,245,602	C/G	—	uncertain significance

Showing 100 of 565 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.