CACNA1S

calcium voltage-gated channel subunit alpha1 S

Pharmacogene

Summary

This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008]

Known Variants2,244 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs190783634	1:201,008,649	T/A	—	likely benign
rs886045791	1:201,008,699	A/T	—	uncertain significance
rs182257024	1:201,008,707	A/G	—	uncertain significance
rs886045792	1:201,008,776	G/A	—	uncertain significance
rs903732048	1:201,008,789	C/T	—	uncertain significance
rs200126670	1:201,008,796	C/T	—	likely benign
rs1660042609	1:201,008,825	C/A	—	uncertain significance
rs886045793	1:201,008,850	C/A	—	uncertain significance
rs186777514	1:201,008,855	A/G	—	likely benign
rs577214090	1:201,008,872	C/T	—	uncertain significance
rs1298607835	1:201,008,959	T/C	—	uncertain significance
rs1453298040	1:201,008,960	C/A	—	uncertain significance
rs1558047318	1:201,008,961	A/G	—	uncertain significance
rs143345409	1:201,008,967	T/C	—	uncertain significance
rs540156963	1:201,008,968	T/C	—	likely benign
rs1553247246	1:201,008,969	G/A	—	uncertain significance
rs2464385342	1:201,008,970	G/A	—	uncertain significance
rs1660054479	1:201,008,975	A/G	—	uncertain significance
rs751405561	1:201,008,989	G/A	—	likely benign
rs2464385642	1:201,008,994	C/T	—	uncertain significance
rs764110964	1:201,008,998	G/C	—	uncertain significance
rs1057524424	1:201,009,005	T/C	—	uncertain significance
rs191263754	1:201,009,006	C/T	—	conflicting classifications of pathogenicity
rs756090938	1:201,009,007	G/A	—	likely benign
rs1356229958	1:201,009,009	G/A	—	conflicting classifications of pathogenicity
rs72749169	1:201,009,011	C/T	—	likely benign
rs1660059896	1:201,009,016	C/T	—	likely benign
rs1660060163	1:201,009,018	G/A	—	likely benign
rs1258648349	1:201,009,022	G/A	—	uncertain significance
rs1660060487	1:201,009,024	A/G	—	uncertain significance
rs746057386	1:201,009,025	C/T	—	likely benign
rs540721779	1:201,009,027	C/T	—	likely benign
rs1364369159	1:201,009,028	G/A	—	likely benign
rs141556780	1:201,009,031	G/T	—	conflicting classifications of pathogenicity
rs1660061995	1:201,009,037	G/T	—	uncertain significance
rs2464386109	1:201,009,038	C/T	—	uncertain significance
rs2102535354	1:201,009,047	G/A	—	uncertain significance
rs370647481	1:201,009,049	G/C	—	uncertain significance
rs145195149	1:201,009,050	C/T	—	uncertain significance
rs374294701	1:201,009,055	C/T	—	uncertain significance
rs1042379	1:201,009,061	C/T	—	likely benign
rs149547196	1:201,009,066	G/A	—	likely benign
rs770076150	1:201,009,067	G/A	—	likely benign
rs775740013	1:201,009,069	C/A	—	uncertain significance
rs200765341	1:201,009,071	T/G	—	conflicting classifications of pathogenicity
rs368214163	1:201,009,074	C/T	—	conflicting classifications of pathogenicity
rs926000507	1:201,009,075	G/A	—	uncertain significance
rs1660068904	1:201,009,086	A/G	—	uncertain significance
rs2464386702	1:201,009,088	C/T	—	likely benign
rs1553247295	1:201,009,092	G/C	—	uncertain significance
rs753800466	1:201,009,097	C/T	—	uncertain significance
rs1183190556	1:201,009,099	T/C	—	uncertain significance
rs373693197	1:201,009,101	A/T	—	uncertain significance
rs2464386884	1:201,009,105	C/T	—	uncertain significance
rs764984855	1:201,009,108	C/T	—	uncertain significance
rs1345641679	1:201,009,112	C/T	—	likely benign
rs2464386967	1:201,009,115	T/C	—	likely benign
rs2464386996	1:201,009,117	G/A	—	uncertain significance
rs1057524423	1:201,009,119	T/C	—	uncertain significance
rs2464387112	1:201,009,128	C/T	—	uncertain significance
rs2464387145	1:201,009,133	A/T	—	uncertain significance
rs758046937	1:201,009,140	A/G	—	uncertain significance
rs777333498	1:201,009,144	C/T	—	conflicting classifications of pathogenicity
rs2464387289	1:201,009,149	C/T	—	uncertain significance
rs1038814118	1:201,009,156	C/T	—	uncertain significance
rs1170882286	1:201,009,158	A/G	—	conflicting classifications of pathogenicity
rs2464387401	1:201,009,159	T/C	—	uncertain significance
rs1410326000	1:201,009,160	G/A	—	likely benign
rs746454478	1:201,009,162	T/A	—	uncertain significance
rs2464387492	1:201,009,163	G/A	—	uncertain significance
rs1553247334	1:201,009,164	A/G	—	uncertain significance
rs1572010898	1:201,009,166	G/A	—	likely benign
rs900319991	1:201,009,177	C/T	—	uncertain significance
rs2464387622	1:201,009,179	G/A	—	uncertain significance
rs1386760958	1:201,009,181	C/T	—	likely benign
rs12139527	1:201,009,182	A/G	—	benign
rs1558047794	1:201,009,187	G/T	—	likely benign
rs781745745	1:201,009,189	C/G	—	uncertain significance
rs1553247345	1:201,009,193	G/A	—	likely benign
rs746407476	1:201,009,194	C/G	—	uncertain significance
rs139945826	1:201,009,200	C/T	—	conflicting classifications of pathogenicity
rs775764917	1:201,009,201	G/A	—	uncertain significance
rs2464388021	1:201,009,203	A/G	—	uncertain significance
rs774557359	1:201,009,213	G/A	—	uncertain significance
rs201064986	1:201,009,229	G/A	—	likely benign
rs375765283	1:201,009,343	C/G	—	likely benign
rs1275656462	1:201,009,346	G/A	—	likely benign
rs368138384	1:201,009,349	C/T	—	likely benign
rs571061537	1:201,009,352	G/A	—	likely benign
rs769074038	1:201,009,353	G/T	—	uncertain significance
rs762200667	1:201,009,354	C/T	—	uncertain significance
rs1364103316	1:201,009,368	C/T	—	likely benign
rs1572011520	1:201,009,370	G/A	—	likely benign
rs371876697	1:201,009,373	G/A	—	likely benign
rs1161249413	1:201,009,384	G/T	—	uncertain significance
rs759514392	1:201,009,385	G/C	—	uncertain significance
rs2464389887	1:201,009,387	G/A	—	uncertain significance
rs2464389900	1:201,009,388	C/G	—	uncertain significance
rs1430395487	1:201,009,389	T/C	—	likely benign
rs370520150	1:201,009,394	A/C	—	uncertain significance

Showing 100 of 2,244 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.