ITPR1

inositol 1,4,5-trisphosphate receptor type 1

Summary

This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]

Known Variants1,600 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886058522	3:4,535,040	C/T	—	uncertain significance
rs565843811	3:4,535,041	A/T	—	benign
rs572878578	3:4,535,067	C/T	—	benign
rs577585180	3:4,535,138	G/A	—	benign
rs886058523	3:4,535,224	C/G	—	uncertain significance
rs886058524	3:4,535,239	C/A	—	uncertain significance
rs750565307	3:4,535,279	C/T	—	uncertain significance
rs13319720	3:4,536,126	A/G	—	benign
rs889404498	3:4,536,144	C/T	—	uncertain significance
rs141017017	3:4,557,816	G/A	—	likely benign
rs113895575	3:4,557,825	A/G	—	likely benign
rs56378811	3:4,558,015	G/A	—	benign
rs73003291	3:4,558,043	A/G	—	likely benign
rs9829878	3:4,558,104	T/C	—	benign
rs369723935	3:4,558,174	A/G	—	conflicting classifications of pathogenicity
rs1575381029	3:4,558,177	T/C	—	uncertain significance
rs2470183025	3:4,558,195	G/A	—	uncertain significance
rs1014423440	3:4,558,208	T/C	—	likely benign
rs2082182114	3:4,558,223	T/A	—	uncertain significance
rs373630095	3:4,558,229	C/T	—	likely benign
rs1319285632	3:4,558,230	G/A	—	uncertain significance
rs200534989	3:4,558,232	G/A	—	benign
rs1193112999	3:4,558,240	C/T	—	uncertain significance
rs112944532	3:4,558,241	G/A	—	likely benign
rs73807272	3:4,558,296	C/G	—	benign
rs1038639	3:4,562,667	G/T	—	benign
rs377158345	3:4,562,690	T/C	—	likely benign
rs2470197282	3:4,562,708	C/T	—	uncertain significance
rs1575397455	3:4,562,715	G/A	—	likely pathogenic
rs2124927468	3:4,562,716	A/G	—	uncertain significance
rs2124927471	3:4,562,721	C/T	—	conflicting classifications of pathogenicity
rs1057518026	3:4,562,722	G/A	missense variant	pathogenic
rs1575397510	3:4,562,741	A/G	—	likely benign
rs1332765334	3:4,562,748	G/A	—	uncertain significance
rs1464038696	3:4,562,751	C/G	—	uncertain significance
rs561470737	3:4,562,755	A/G	—	conflicting classifications of pathogenicity
rs370939479	3:4,562,756	C/G	—	uncertain significance
rs530398155	3:4,562,791	C/T	—	likely benign
rs304015	3:4,562,910	G/C	—	benign
rs73807280	3:4,563,015	G/T	—	likely benign
rs146476230	3:4,563,044	G/A	—	likely benign
rs569811612	3:4,576,505	C/T	—	—
rs73102492	3:4,623,931	C/T	regulatory region variant	—
rs1493115	3:4,626,715	A/T	—	—
rs2322734	3:4,633,492	C/G	—	—
rs9832246	3:4,669,115	T/C	—	benign
rs57917131	3:4,669,222	G/A	—	benign
rs9828379	3:4,669,244	A/C	—	benign
rs1398942748	3:4,669,434	G/A	—	likely benign
rs1031725122	3:4,669,444	T/C	—	uncertain significance
rs376974334	3:4,669,461	C/G	—	uncertain significance
rs1559566851	3:4,669,465	G/C	—	uncertain significance
rs370953766	3:4,669,471	T/C	—	uncertain significance
rs563347395	3:4,669,478	C/G	—	benign
rs2470550370	3:4,669,482	T/G	—	uncertain significance
rs2470550431	3:4,669,509	G/A	—	uncertain significance
rs774483090	3:4,669,531	C/G	—	uncertain significance
rs367814655	3:4,669,538	C/T	—	conflicting classifications of pathogenicity
rs767787371	3:4,669,539	G/A	—	conflicting classifications of pathogenicity
rs371299264	3:4,669,562	C/T	—	conflicting classifications of pathogenicity
rs764519723	3:4,669,566	C/G	—	uncertain significance
rs754207637	3:4,669,573	C/T	—	likely benign
rs1258422057	3:4,669,575	A/G	—	likely benign
rs757773705	3:4,669,578	G/A	—	likely benign
rs1266284169	3:4,669,580	G/C	—	likely benign
rs2307067	3:4,669,692	G/A	—	benign
rs2307066	3:4,669,717	G/C	—	benign
rs148269974	3:4,669,876	A/G	—	likely benign
rs139174788	3:4,680,898	T/C	—	likely benign
rs1488571245	3:4,681,052	T/C	—	likely benign
rs761952049	3:4,681,058	C/A	—	likely benign
rs749104116	3:4,681,070	C/T	—	likely benign
rs374450149	3:4,681,091	G/C	—	uncertain significance
rs1422417911	3:4,681,094	G/A	—	likely benign
rs2093283649	3:4,681,107	A/G	—	uncertain significance
rs2470590304	3:4,681,114	A/C	—	uncertain significance
rs765293787	3:4,681,124	G/A	—	likely benign
rs745891343	3:4,681,125	A/G	—	uncertain significance
rs772307012	3:4,681,127	C/T	—	likely benign
rs534789801	3:4,681,128	G/A	—	uncertain significance
rs367863297	3:4,681,144	A/G	—	uncertain significance
rs532037891	3:4,681,149	A/T	—	uncertain significance
rs2470590510	3:4,681,158	G/A	—	uncertain significance
rs1559591437	3:4,681,160	T/A	—	uncertain significance
rs145989158	3:4,681,169	C/T	—	conflicting classifications of pathogenicity
rs4685784	3:4,683,606	G/C	—	benign
rs1340577937	3:4,683,757	T/G	—	uncertain significance
rs2470601451	3:4,683,764	G/T	—	likely benign
rs2093352251	3:4,683,782	G/A	—	likely benign
rs61741506	3:4,683,848	C/T	—	benign
rs2093352735	3:4,683,853	G/A	—	uncertain significance
rs2093352778	3:4,683,857	C/T	—	likely benign
rs2093352919	3:4,683,861	T/C	—	likely benign
rs745764856	3:4,683,866	C/T	—	likely benign
rs1414031340	3:4,683,868	A/G	—	uncertain significance
rs1406806479	3:4,683,876	A/G	—	uncertain significance
rs886058578	3:4,683,884	G/A	—	conflicting classifications of pathogenicity
rs2093353837	3:4,683,911	C/T	—	likely benign
rs886058579	3:4,683,918	C/T	—	pathogenic
rs146177759	3:4,683,925	T/C	—	uncertain significance

Showing 100 of 1,600 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.