ANO10

anoctamin 10

Summary

The transmembrane protein encoded by this gene belongs to the anoctamin family of calcium-activated chloride channels, also known as the transmembrane 16 family. The encoded protein contains eight transmembrane domains with cytosolic N- and C-termini. Defects in this gene may cause autosomal recessive spinocerebellar ataxia-10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]

Known Variants396 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1044107285	3:43,407,829	A/G	—	uncertain significance
rs886058475	3:43,407,934	G/A	—	uncertain significance
rs886058476	3:43,407,946	T/C	—	uncertain significance
rs112787589	3:43,407,951	T/C	—	conflicting classifications of pathogenicity
rs114518528	3:43,407,954	G/A	—	benign
rs376644560	3:43,407,960	T/A	—	uncertain significance
rs17075612	3:43,407,966	C/A	—	benign
rs1009967018	3:43,407,980	A/G	—	uncertain significance
rs145489333	3:43,408,026	C/A	—	uncertain significance
rs114561351	3:43,408,030	G/A	—	uncertain significance
rs73831273	3:43,408,152	T/C	—	likely benign
rs904271838	3:43,408,161	C/G	—	uncertain significance
rs73831274	3:43,408,202	G/T	—	benign
rs111871863	3:43,408,219	A/G	—	conflicting classifications of pathogenicity
rs951493321	3:43,408,233	C/T	—	uncertain significance
rs1025591959	3:43,408,234	G/A	—	uncertain significance
rs776954907	3:43,408,307	C/T	—	uncertain significance
rs560234921	3:43,408,316	C/T	—	uncertain significance
rs377647762	3:43,408,388	C/T	—	uncertain significance
rs756170502	3:43,408,419	G/A	—	likely benign
rs147989825	3:43,408,427	T/C	—	conflicting classifications of pathogenicity
rs759676008	3:43,408,449	G/A	—	likely benign
rs747153209	3:43,408,455	G/A	—	likely benign
rs1260794121	3:43,408,458	C/T	—	conflicting classifications of pathogenicity
rs887376698	3:43,408,473	A/C	—	likely benign
rs1171231650	3:43,408,476	G/C	—	likely benign
rs2091433067	3:43,408,481	C/T	—	likely benign
rs73831275	3:43,408,545	T/G	—	benign
rs74804865	3:43,408,736	C/T	—	benign
rs146629436	3:43,414,282	G/T	—	likely benign
rs6441771	3:43,414,318	A/G	—	benign
rs141400669	3:43,414,329	C/T	—	benign
rs974545140	3:43,414,349	C/G	—	uncertain significance
rs78301985	3:43,428,589	G/T	—	—
rs77463213	3:43,432,024	C/T	intron variant	—
rs75507005	3:43,432,429	T/C	intron variant	—
rs74652506	3:43,443,878	C/T	intron variant	—
rs7650267	3:43,467,895	T/C	downstream gene variant	—
rs11710079	3:43,473,866	A/G	—	benign
rs11710107	3:43,473,914	A/C	—	benign
rs2092999627	3:43,474,094	T/C	—	likely benign
rs113187031	3:43,474,100	C/T	—	conflicting classifications of pathogenicity
rs2529507547	3:43,474,124	A/T	—	likely benign
rs778892773	3:43,474,138	G/A	—	likely benign
rs751654909	3:43,474,145	T/C	—	likely benign
rs781404448	3:43,474,151	C/T	—	uncertain significance
rs141806947	3:43,474,153	T/C	—	conflicting classifications of pathogenicity
rs778038012	3:43,474,164	C/T	—	uncertain significance
rs138000380	3:43,474,174	C/T	missense variant	pathogenic
rs1373132609	3:43,474,180	T/C	—	uncertain significance
rs761659935	3:43,474,200	T/C	—	uncertain significance
rs2529509157	3:43,474,211	G/A	—	likely benign
rs144728237	3:43,474,216	C/T	—	uncertain significance
rs754900776	3:43,474,217	G/A	—	likely benign
rs1385375294	3:43,474,231	A/C	—	likely benign
rs2093003399	3:43,474,235	A/G	—	likely benign
rs551651453	3:43,474,236	G/A	—	likely benign
rs2529509788	3:43,474,238	A/T	—	likely benign
rs9845142	3:43,479,658	G/C	—	—
rs9809577	3:43,528,082	C/A	upstream gene variant	—
rs17075814	3:43,590,974	T/C	—	benign
rs9874278	3:43,591,134	C/A	—	benign
rs12638282	3:43,591,142	G/A	—	benign
rs746501335	3:43,591,193	A/C	—	likely benign
rs2079367658	3:43,591,196	T/G	—	likely benign
rs2079367814	3:43,591,198	A/C	—	likely benign
rs2528899990	3:43,591,201	T/C	—	likely benign
rs1206950481	3:43,591,211	C/T	—	likely pathogenic
rs765032374	3:43,591,239	G/A	—	likely benign
rs762918406	3:43,591,249	G/C	—	pathogenic
rs1022215776	3:43,591,256	G/T	—	uncertain significance
rs2079372606	3:43,591,269	C/G	—	likely benign
rs2079372792	3:43,591,278	T/C	—	likely benign
rs865842244	3:43,591,285	C/T	—	uncertain significance
rs746207433	3:43,591,293	C/T	—	likely benign
rs759026322	3:43,591,294	G/A	—	uncertain significance
rs142862162	3:43,591,299	G/A	—	conflicting classifications of pathogenicity
rs1553709113	3:43,591,321	C/T	—	uncertain significance
rs141040660	3:43,591,326	C/G	—	conflicting classifications of pathogenicity
rs17409162	3:43,591,327	A/G	—	benign
rs2528905455	3:43,591,335	A/T	—	likely benign
rs797045240	3:43,591,342	T/C	—	pathogenic
rs115769245	3:43,591,348	A/C	—	likely benign
rs1842805	3:43,591,405	T/C	—	benign
rs9829081	3:43,592,906	T/C	—	benign
rs139348667	3:43,596,759	C/T	—	likely benign
rs763430302	3:43,596,791	T/C	—	likely benign
rs2529009538	3:43,596,792	G/C	—	pathogenic
rs538680619	3:43,596,795	G/T	—	uncertain significance
rs755557453	3:43,596,806	T/C	—	likely benign
rs372086237	3:43,596,810	C/T	—	uncertain significance
rs752320058	3:43,596,811	G/A	—	uncertain significance
rs2529011073	3:43,596,842	T/G	—	likely benign
rs886058477	3:43,596,843	G/A	—	uncertain significance
rs1303561743	3:43,596,853	C/A	—	pathogenic
rs2529011370	3:43,596,854	A/C	—	likely benign
rs149914846	3:43,596,872	A/G	—	likely benign
rs770747754	3:43,596,875	A/G	—	likely benign
rs150026260	3:43,596,879	G/A	—	conflicting classifications of pathogenicity
rs376056799	3:43,596,890	T/C	—	likely benign

Showing 100 of 396 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.