OTOG

otogelin

Summary

The protein encoded by this gene is a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. It is involved in fibrillar network organization, the anchoring of otoconial membranes and cupulae to the neuroepithelia, and likely in sound stimulation resistance. Mutations in this gene cause autosomal recessive nonsyndromic deafness, type 18B. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]

Known Variants1,108 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs12282938	11:17,568,611	G/A	—	benign
rs953945741	11:17,568,920	A/G	—	uncertain significance
rs533327958	11:17,568,932	G/A	—	uncertain significance
rs1018902503	11:17,568,933	C/T	—	uncertain significance
rs770222544	11:17,568,934	G/A	—	conflicting classifications of pathogenicity
rs773298682	11:17,568,935	T/C	—	likely benign
rs149500671	11:17,568,940	G/A	—	benign
rs1851830920	11:17,568,961	C/T	—	likely benign
rs2133989074	11:17,568,969	C/T	—	uncertain significance
rs1447411019	11:17,568,989	G/A	—	uncertain significance
rs947155842	11:17,568,995	C/T	—	likely benign
rs2497350519	11:17,568,996	T/A	—	uncertain significance
rs776961395	11:17,569,012	C/T	—	conflicting classifications of pathogenicity
rs565203765	11:17,569,013	G/A	—	uncertain significance
rs1851833422	11:17,569,030	C/T	—	uncertain significance
rs1216368455	11:17,569,049	C/G	—	uncertain significance
rs111425080	11:17,569,050	G/A	—	benign
rs1243586082	11:17,569,063	C/T	—	likely benign
rs764004379	11:17,569,064	G/A	—	uncertain significance
rs1253663735	11:17,569,067	A/G	—	uncertain significance
rs1028266270	11:17,569,075	G/A	—	uncertain significance
rs978749480	11:17,569,087	C/T	—	likely benign
rs550807341	11:17,569,088	G/T	—	conflicting classifications of pathogenicity
rs568988885	11:17,569,089	C/T	—	uncertain significance
rs1008123953	11:17,569,090	G/A	—	likely benign
rs12360902	11:17,569,392	C/G	—	benign
rs77311172	11:17,569,485	G/A	—	benign
rs58448442	11:17,569,523	C/G	—	benign
rs76186800	11:17,569,527	C/G	—	benign
rs1329856622	11:17,569,665	C/A	—	likely benign
rs778936250	11:17,569,670	C/A	—	likely benign
rs904320984	11:17,569,685	C/T	—	uncertain significance
rs376286628	11:17,569,711	G/A	—	likely benign
rs572827464	11:17,569,716	C/T	—	uncertain significance
rs896480008	11:17,569,752	G/A	—	uncertain significance
rs2497353865	11:17,569,758	A/G	—	uncertain significance
rs2133990473	11:17,569,777	A/G	—	likely benign
rs58569858	11:17,569,885	G/A	—	benign
rs947297014	11:17,570,003	T/A	—	likely benign
rs10766410	11:17,573,329	A/G	—	benign
rs2497362723	11:17,573,533	C/G	—	likely benign
rs2133995808	11:17,573,550	G/A	—	uncertain significance
rs11823045	11:17,573,567	C/T	—	benign
rs764706873	11:17,573,568	G/A	—	uncertain significance
rs1260548574	11:17,573,592	C/T	—	uncertain significance
rs941077657	11:17,573,614	C/G	—	uncertain significance
rs567428169	11:17,573,616	C/G	—	uncertain significance
rs1261299676	11:17,573,621	C/T	—	uncertain significance
rs535970426	11:17,573,626	A/C	—	uncertain significance
rs141597314	11:17,573,632	A/T	—	benign
rs876657554	11:17,573,637	C/T	—	likely benign
rs78554283	11:17,573,749	C/G	—	benign
rs7929777	11:17,573,787	G/T	—	likely benign
rs77289919	11:17,574,372	C/T	—	benign
rs4757543	11:17,574,588	T/C	—	benign
rs940070842	11:17,574,648	T/A	—	likely benign
rs1435483987	11:17,574,663	C/A	—	uncertain significance
rs574007567	11:17,574,667	C/G	—	pathogenic
rs750971564	11:17,574,683	A/G	—	uncertain significance
rs534942001	11:17,574,684	A/G	—	likely benign
rs1449133113	11:17,574,703	C/A	—	uncertain significance
rs545257884	11:17,574,708	C/G	—	conflicting classifications of pathogenicity
rs527900760	11:17,574,725	C/T	—	uncertain significance
rs771604601	11:17,574,726	G/A	—	uncertain significance
rs778084555	11:17,574,731	A/G	—	uncertain significance
rs1403454339	11:17,574,738	C/T	—	uncertain significance
rs542646349	11:17,574,744	C/T	—	conflicting classifications of pathogenicity
rs1851981434	11:17,574,752	C/T	—	pathogenic
rs552304627	11:17,574,758	G/A	—	conflicting classifications of pathogenicity
rs139222878	11:17,574,765	C/T	—	benign
rs766172178	11:17,574,921	C/T	—	likely benign
rs570174696	11:17,574,922	C/T	—	likely benign
rs186893662	11:17,574,923	G/A	—	uncertain significance
rs752392477	11:17,574,947	C/T	—	uncertain significance
rs1260721968	11:17,574,948	G/A	—	uncertain significance
rs548971081	11:17,574,952	G/A	—	likely benign
rs1475024999	11:17,574,956	G/A	—	uncertain significance
rs567294014	11:17,574,967	C/T	—	likely benign
rs779238030	11:17,574,976	A/G	—	conflicting classifications of pathogenicity
rs1554967816	11:17,574,985	G/T	—	likely benign
rs1030011828	11:17,574,998	C/A	—	uncertain significance
rs1851989350	11:17,575,000	C/A	—	likely benign
rs1396310498	11:17,575,020	C/A	—	uncertain significance
rs553286919	11:17,575,031	C/T	—	uncertain significance
rs149868055	11:17,575,042	C/T	—	likely benign
rs876657556	11:17,575,053	G/C	—	likely benign
rs1250328885	11:17,575,054	C/T	—	likely benign
rs61995706	11:17,575,060	C/T	—	benign
rs1214297784	11:17,575,069	G/A	—	likely benign
rs1027600196	11:17,575,074	C/T	—	likely benign
rs1250810084	11:17,575,077	C/A	—	likely benign
rs188778961	11:17,575,239	C/A	—	likely benign
rs115211278	11:17,577,085	G/A	—	benign
rs73418056	11:17,577,193	C/G	—	likely benign
rs4757544	11:17,577,223	T/C	—	benign
rs113621001	11:17,577,238	G/A	—	benign
rs182765833	11:17,577,305	G/A	—	likely benign
rs748075389	11:17,577,335	G/A	—	uncertain significance
rs544318852	11:17,577,340	G/A	—	likely benign
rs990516929	11:17,577,351	C/G	—	uncertain significance

Showing 100 of 1,108 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.