OTOA

otoancorin

Summary

The protein encoded by this gene is specifically expressed in the inner ear, and is located at the interface between the apical surface of the inner ear sensory epithelia and their overlying acellular gels. It is prposed that this protein is involved in the attachment of the inner ear acellular gels to the apical surface of the underlying nonsensory cells. Mutations in this gene are associated with autosomal recessive deafness type 22 (DFNB22). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

Known Variants542 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs118052093	16:21,689,571	A/T	—	likely benign
rs77996753	16:21,689,775	G/A	—	benign
rs215894	16:21,689,791	T/A	—	benign
rs1191448181	16:21,689,847	A/G	—	likely benign
rs776083450	16:21,689,853	G/A	—	likely benign
rs775840011	16:21,689,859	C/T	—	likely benign
rs546735877	16:21,689,863	C/T	—	uncertain significance
rs78970023	16:21,689,879	T/A	—	benign
rs749912295	16:21,689,892	A/T	—	conflicting classifications of pathogenicity
rs780990149	16:21,689,898	G/A	—	likely benign
rs2506956205	16:21,689,907	A/G	—	likely benign
rs938700685	16:21,689,913	A/G	—	likely benign
rs2141652614	16:21,689,921	G/A	—	uncertain significance
rs1180279498	16:21,689,927	G/T	—	pathogenic
rs1966867873	16:21,689,935	T/C	—	likely benign
rs767091787	16:21,690,216	A/G	—	likely benign
rs180736579	16:21,690,219	C/A	—	likely benign
rs117553471	16:21,690,225	C/T	—	likely benign
rs376382794	16:21,690,235	G/T	—	pathogenic
rs766274586	16:21,690,236	A/T	—	uncertain significance
rs372826296	16:21,690,240	G/T	—	uncertain significance
rs769011374	16:21,690,247	T/C	—	likely benign
rs770229981	16:21,690,258	C/T	—	likely benign
rs201061211	16:21,690,263	C/T	—	uncertain significance
rs200215069	16:21,690,274	C/G	—	likely benign
rs2506957135	16:21,690,276	A/C	—	likely benign
rs7187792	16:21,690,337	G/A	—	likely benign
rs1463989900	16:21,690,342	C/T	—	likely benign
rs2506957265	16:21,690,344	C/T	—	likely benign
rs1248739614	16:21,690,349	C/T	—	likely benign
rs749551809	16:21,690,353	T/G	—	likely benign
rs2506957305	16:21,690,360	G/T	—	pathogenic
rs730882117	16:21,690,367	T/C	—	uncertain significance
rs774931605	16:21,690,396	C/T	—	likely benign
rs2506957378	16:21,690,397	C/T	—	likely benign
rs372055857	16:21,690,403	G/A	—	likely benign
rs1039940867	16:21,690,404	A/G	—	likely benign
rs375683455	16:21,690,405	T/A	—	likely benign
rs758384344	16:21,690,487	A/G	—	likely benign
rs886044177	16:21,690,528	C/A	—	uncertain significance
rs1966870886	16:21,690,544	T/A	—	likely benign
rs2506957680	16:21,690,551	G/A	—	likely benign
rs1409652092	16:21,690,552	A/G	—	likely benign
rs12445216	16:21,690,559	G/A	—	benign
rs12445825	16:21,690,785	C/T	—	benign
rs1056826783	16:21,693,041	G/C	—	likely benign
rs750035094	16:21,693,044	T/C	—	likely benign
rs1440432996	16:21,693,045	G/C	—	likely benign
rs776210902	16:21,693,047	C/T	—	likely benign
rs2506960968	16:21,693,051	A/G	—	likely benign
rs369772866	16:21,693,060	T/C	—	uncertain significance
rs1272719621	16:21,693,065	C/T	—	likely benign
rs140152105	16:21,693,073	C/T	—	uncertain significance
rs2506961051	16:21,693,074	G/A	—	likely benign
rs1199835713	16:21,693,088	A/G	—	uncertain significance
rs1966896627	16:21,693,101	C/T	—	likely benign
rs2506961145	16:21,693,107	G/A	—	likely benign
rs995856279	16:21,693,111	T/C	—	uncertain significance
rs147088274	16:21,693,115	G/A	—	conflicting classifications of pathogenicity
rs200249536	16:21,693,123	G/A	—	uncertain significance
rs371085958	16:21,693,134	C/T	—	likely benign
rs776180718	16:21,693,141	C/T	—	likely benign
rs1966897756	16:21,693,147	G/C	—	likely pathogenic
rs1310241377	16:21,693,151	G/A	—	uncertain significance
rs1008686772	16:21,693,154	C/T	—	conflicting classifications of pathogenicity
rs747774114	16:21,693,158	A/G	—	likely benign
rs769534844	16:21,693,163	C/T	—	likely benign
rs931046043	16:21,695,874	G/A	—	uncertain significance
rs183719341	16:21,696,524	C/G	—	likely benign
rs1180524201	16:21,696,534	C/G	—	likely benign
rs376188519	16:21,696,539	C/A	—	likely benign
rs2506967033	16:21,696,546	T/C	—	likely benign
rs770892393	16:21,696,549	A/G	—	pathogenic
rs1162683061	16:21,696,552	C/A	—	uncertain significance
rs774174526	16:21,696,556	C/T	—	likely benign
rs759414633	16:21,696,557	G/A	—	uncertain significance
rs2506967147	16:21,696,574	G/A	—	likely benign
rs1489054328	16:21,696,579	G/A	—	uncertain significance
rs1274374375	16:21,696,595	G/A	—	likely benign
rs765295123	16:21,696,601	G/A	—	likely benign
rs1184358879	16:21,696,610	C/A	—	uncertain significance
rs2506967271	16:21,696,613	G/A	—	likely benign
rs1016182526	16:21,696,616	G/A	—	likely benign
rs758593584	16:21,696,618	A/G	—	uncertain significance
rs766671363	16:21,696,622	A/G	—	likely benign
rs751909775	16:21,696,625	C/T	—	likely benign
rs2506967337	16:21,696,628	C/G	—	likely benign
rs2141658932	16:21,696,629	C/T	—	pathogenic
rs1399720818	16:21,696,632	C/T	—	pathogenic
rs777388246	16:21,696,638	C/T	—	uncertain significance
rs2506967427	16:21,696,655	C/T	—	likely benign
rs770570982	16:21,696,658	C/T	—	likely benign
rs772099935	16:21,696,660	T/C	—	uncertain significance
rs2141659003	16:21,696,674	G/T	—	uncertain significance
rs367679697	16:21,696,676	C/T	—	likely benign
rs1204323400	16:21,696,677	G/A	—	uncertain significance
rs147717988	16:21,696,679	C/T	—	likely benign
rs760573914	16:21,696,684	T/C	—	pathogenic
rs2506967560	16:21,696,690	G/A	—	likely benign
rs1188193960	16:21,696,691	C/A	—	likely benign

Showing 100 of 542 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.