COCH

cochlin

Summary

The protein encoded by this gene is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively. Hybridization to this gene was detected in spindle-shaped cells located along nerve fibers between the auditory ganglion and sensory epithelium. These cells accompany neurites at the habenula perforata, the opening through which neurites extend to innervate hair cells. This and the pattern of expression of this gene in chicken inner ear paralleled the histologic findings of acidophilic deposits, consistent with mucopolysaccharide ground substance, in temporal bones from DFNA9 (autosomal dominant nonsyndromic sensorineural deafness 9) patients. Mutations that cause DFNA9 have been reported in this gene. Alternative splicing results in multiple transcript variants encoding the same protein. Additional splice variants encoding distinct isoforms have been described but their biological validities have not been demonstrated. [provided by RefSeq, Oct 2008]

Known Variants226 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886050442	14:31,343,755	C/T	—	uncertain significance
rs28400022	14:31,343,950	T/G	—	likely benign
rs11555426	14:31,344,039	G/A	—	benign
rs78284050	14:31,344,071	G/A	—	likely benign
rs200113981	14:31,344,135	A/G	—	uncertain significance
rs200935305	14:31,344,166	G/A	—	conflicting classifications of pathogenicity
rs760397052	14:31,344,169	C/G	—	conflicting classifications of pathogenicity
rs371978704	14:31,344,193	C/T	—	likely benign
rs1213767677	14:31,344,262	G/A	—	uncertain significance
rs1895303852	14:31,344,265	T/C	—	uncertain significance
rs1325512875	14:31,344,291	G/A	—	uncertain significance
rs371802597	14:31,344,300	G/C	—	uncertain significance
rs1124179	14:31,344,373	G/A	—	likely benign
rs56946687	14:31,344,397	C/T	—	benign
rs1569792	14:31,344,406	T/G	—	benign
rs149627009	14:31,344,458	G/A	—	likely benign
rs1124180	14:31,344,483	C/T	—	benign
rs2502697878	14:31,344,485	G/A	—	likely benign
rs7158281	14:31,344,513	C/G	—	likely benign
rs188655455	14:31,346,457	T/C	—	likely benign
rs77298564	14:31,346,480	A/G	—	benign
rs2284654	14:31,346,510	A/C	—	benign
rs1124181	14:31,346,566	C/G	—	benign
rs762738272	14:31,346,761	A/G	—	likely benign
rs774290415	14:31,346,782	C/T	—	conflicting classifications of pathogenicity
rs759563279	14:31,346,791	C/T	—	likely benign
rs1232040436	14:31,346,802	C/T	—	uncertain significance
rs372237012	14:31,346,803	C/T	—	conflicting classifications of pathogenicity
rs1360236880	14:31,346,804	A/G	—	uncertain significance
rs1391189162	14:31,346,808	G/A	—	uncertain significance
rs143098658	14:31,346,813	G/A	—	conflicting classifications of pathogenicity
rs146115619	14:31,346,821	G/A	—	uncertain significance
rs2502708823	14:31,346,825	G/C	—	uncertain significance
rs199674735	14:31,346,836	T/C	—	likely benign
rs1458822136	14:31,346,844	G/A	—	uncertain significance
rs28938175	14:31,346,846	C/T	missense variant	pathogenic
rs573330522	14:31,346,848	A/C	—	conflicting classifications of pathogenicity
rs1594371470	14:31,346,862	T/C	—	likely benign
rs772104254	14:31,346,872	C/A	—	uncertain significance
rs148102471	14:31,346,888	A/G	—	uncertain significance
rs121908927	14:31,346,892	T/G	missense variant	pathogenic
rs28400029	14:31,346,893	A/T	—	conflicting classifications of pathogenicity
rs1196260691	14:31,346,898	C/T	—	uncertain significance
rs755385664	14:31,346,902	T/C	—	likely benign
rs781725849	14:31,346,907	C/T	—	uncertain significance
rs563163157	14:31,346,939	G/A	—	conflicting classifications of pathogenicity
rs377273539	14:31,346,941	C/G	—	likely benign
rs199980125	14:31,346,971	G/A	—	likely benign
rs201871505	14:31,346,973	C/T	—	likely benign
rs2239581	14:31,347,012	T/C	—	benign
rs2239580	14:31,347,073	T/C	—	benign
rs2378812	14:31,347,709	A/G	—	benign
rs143609554	14:31,347,778	A/T	—	benign
rs368636828	14:31,348,001	T/C	—	likely benign
rs2138843742	14:31,348,036	G/T	—	pathogenic
rs1555310861	14:31,348,037	G/C	—	likely pathogenic
rs121908928	14:31,348,040	G/A	missense variant	pathogenic
rs149903169	14:31,348,043	C/A	—	uncertain significance
rs540895576	14:31,348,048	C/T	—	pathogenic
rs188283330	14:31,348,049	G/A	—	conflicting classifications of pathogenicity
rs775781203	14:31,348,059	C/A	—	uncertain significance
rs756790858	14:31,348,069	C/T	—	likely pathogenic
rs764704351	14:31,348,070	G/A	—	uncertain significance
rs1895469264	14:31,348,078	T/A	—	uncertain significance
rs1273768627	14:31,348,091	A/G	—	uncertain significance
rs1310628801	14:31,348,097	A/G	—	uncertain significance
rs779886624	14:31,348,098	T/C	—	likely benign
rs121908930	14:31,348,103	T/A	missense variant	pathogenic
rs1281507766	14:31,348,106	A/G	—	uncertain significance
rs1351883418	14:31,348,109	C/A	—	uncertain significance
rs924049830	14:31,348,117	C/T	—	uncertain significance
rs2138844314	14:31,348,118	T/C	—	pathogenic
rs2138844332	14:31,348,122	T/C	—	likely benign
rs121908929	14:31,348,126	T/C	missense variant	pathogenic
rs121908931	14:31,348,132	G/A	missense variant	pathogenic
rs2502716376	14:31,348,139	T/C	—	pathogenic
rs376255896	14:31,348,154	G/A	—	uncertain significance
rs77118076	14:31,348,173	T/C	—	benign
rs76449673	14:31,348,191	C/A	—	likely benign
rs1895490540	14:31,348,644	C/T	—	uncertain significance
rs28400035	14:31,348,658	G/A	—	uncertain significance
rs2138846520	14:31,348,665	C/A	—	uncertain significance
rs147841606	14:31,348,684	A/G	—	benign
rs1895492110	14:31,348,688	A/G	—	uncertain significance
rs7140538	14:31,348,876	G/T	—	benign
rs7140258	14:31,348,937	C/A	—	benign
rs2295127	14:31,349,470	C/A	—	benign
rs28400037	14:31,349,594	A/G	—	benign
rs755252656	14:31,349,663	C/T	—	uncertain significance
rs543399762	14:31,349,664	G/A	—	uncertain significance
rs375789836	14:31,349,745	C/T	—	likely benign
rs773935807	14:31,349,789	G/A	—	conflicting classifications of pathogenicity
rs2502724424	14:31,349,804	G/A	—	uncertain significance
rs1895542689	14:31,349,806	C/G	—	uncertain significance
rs771810191	14:31,349,807	A/G	—	uncertain significance
rs760423119	14:31,349,821	T/G	—	uncertain significance
rs559481815	14:31,349,849	C/T	—	pathogenic
rs369882771	14:31,349,850	G/A	—	uncertain significance
rs752834753	14:31,349,858	T/A	—	uncertain significance
rs757768757	14:31,349,893	G/T	—	uncertain significance

Showing 100 of 226 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.