TMC1

transmembrane channel like 1

Summary

This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown; however, it is known to be required for normal function of cochlear hair cells. Mutations in this gene have been associated with progressive postlingual hearing loss and profound prelingual deafness. [provided by RefSeq, Jul 2008]

Known Variants593 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs112220638	9:75,136,717	C/T	—	likely benign
rs757908231	9:75,136,776	T/C	—	uncertain significance
rs7022441	9:75,136,789	G/A	—	benign
rs1823318883	9:75,136,815	T/G	—	uncertain significance
rs939516320	9:75,192,860	G/A	—	uncertain significance
rs1022291966	9:75,192,895	C/T	—	uncertain significance
rs7856724	9:75,192,916	A/C	—	benign
rs10217204	9:75,231,217	G/A	—	benign
rs1391656977	9:75,231,294	A/T	—	uncertain significance
rs58824091	9:75,231,314	G/A	—	conflicting classifications of pathogenicity
rs541857536	9:75,231,337	C/T	—	uncertain significance
rs1057515621	9:75,231,369	C/T	—	uncertain significance
rs7026304	9:75,231,370	A/G	—	benign
rs533837914	9:75,242,908	T/C	—	conflicting classifications of pathogenicity
rs2489587191	9:75,263,569	C/A	—	pathogenic
rs569626109	9:75,263,571	C/A	—	uncertain significance
rs2489587225	9:75,263,573	C/T	—	likely benign
rs1169090943	9:75,263,581	G/T	—	pathogenic
rs374338788	9:75,263,584	T/C	—	likely benign
rs1390422060	9:75,263,594	C/A	—	likely benign
rs2489587315	9:75,263,600	T/C	—	likely benign
rs1444842	9:75,263,674	T/G	—	benign
rs34872646	9:75,263,770	C/T	—	benign
rs148612939	9:75,263,776	T/C	—	likely benign
rs73647684	9:75,263,787	G/T	—	likely benign
rs1181676165	9:75,303,609	T/C	—	likely benign
rs2132183942	9:75,303,643	A/G	—	uncertain significance
rs2589615	9:75,303,653	C/T	—	benign
rs140437301	9:75,303,654	G/A	—	uncertain significance
rs189479995	9:75,303,667	G/C	—	uncertain significance
rs144387828	9:75,303,672	A/G	—	uncertain significance
rs1300268466	9:75,303,674	T/C	—	pathogenic
rs752499835	9:75,303,681	T/C	—	likely benign
rs762858152	9:75,303,683	A/T	—	likely benign
rs1447391652	9:75,303,684	T/C	—	likely benign
rs1033776269	9:75,303,691	C/T	—	likely benign
rs1663742	9:75,309,143	G/A	—	benign
rs182636408	9:75,309,448	G/C	—	likely benign
rs576970134	9:75,309,449	C/T	—	uncertain significance
rs201199492	9:75,309,451	A/C	—	likely benign
rs1219870972	9:75,309,466	G/A	—	likely benign
rs769476838	9:75,309,472	G/A	—	likely benign
rs748771130	9:75,309,478	G/A	—	likely benign
rs770793343	9:75,309,481	A/G	—	likely benign
rs1826518222	9:75,309,488	C/T	—	likely benign
rs121908073	9:75,309,494	C/T	stop gained	pathogenic
rs2132189522	9:75,309,502	G/A	—	likely benign
rs111353632	9:75,309,529	C/A	—	likely benign
rs140388347	9:75,309,535	T/A	—	conflicting classifications of pathogenicity
rs149947445	9:75,309,539	A/C	—	uncertain significance
rs2489705679	9:75,309,541	C/A	—	likely benign
rs751950994	9:75,309,571	G/A	—	likely benign
rs145098032	9:75,309,587	A/G	—	likely benign
rs878853230	9:75,309,623	—	—	pathogenic
rs140482278	9:75,309,630	C/A	—	uncertain significance
rs775428246	9:75,309,631	G/T	splice region variant	pathogenic
rs2489706109	9:75,309,639	G/C	—	likely benign
rs532289573	9:75,309,642	C/T	—	likely benign
rs2589614	9:75,309,846	T/C	—	benign
rs137976727	9:75,315,261	A/G	—	likely benign
rs117344485	9:75,315,390	G/A	—	likely benign
rs1826624309	9:75,315,427	T/G	—	likely benign
rs2489718855	9:75,315,428	T/C	—	likely benign
rs1057515622	9:75,315,429	T/A	—	conflicting classifications of pathogenicity
rs1796993	9:75,315,438	G/A	missense variant	benign
rs1826624806	9:75,315,441	G/T	—	pathogenic
rs1295277804	9:75,315,444	G/T	—	pathogenic
rs1588038557	9:75,315,454	A/G	—	uncertain significance
rs886043585	9:75,315,462	T/C	—	uncertain significance
rs2489719127	9:75,315,483	T/C	—	likely benign
rs1404599529	9:75,315,488	T/C	—	likely benign
rs1237261384	9:75,315,512	T/C	—	likely benign
rs2489719334	9:75,315,528	T/C	—	uncertain significance
rs1345926328	9:75,315,529	G/A	—	pathogenic
rs397517840	9:75,315,536	G/A	—	uncertain significance
rs370554600	9:75,315,539	G/A	—	likely benign
rs1222930328	9:75,315,542	G/C	—	uncertain significance
rs1439351996	9:75,315,549	G/T	—	conflicting classifications of pathogenicity
rs1826626358	9:75,315,560	G/C	—	likely pathogenic
rs1453543733	9:75,315,568	C/T	—	likely benign
rs1826626517	9:75,315,570	A/G	—	likely benign
rs779995023	9:75,315,574	T/C	—	likely benign
rs7046504	9:75,315,659	T/C	—	benign
rs1041642772	9:75,315,683	C/T	—	likely benign
rs1838488	9:75,332,795	C/A	—	—
rs143738360	9:75,354,928	G/A	—	likely benign
rs77477610	9:75,355,007	A/G	—	likely benign
rs145181573	9:75,355,009	C/A	—	likely benign
rs1827362304	9:75,355,015	T/C	—	likely benign
rs1258669678	9:75,355,027	T/C	—	likely benign
rs377607548	9:75,355,045	A/C	—	uncertain significance
rs1417764398	9:75,355,051	G/A	—	uncertain significance
rs372983741	9:75,355,054	A/G	—	uncertain significance
rs2489806461	9:75,355,071	T/C	—	likely benign
rs397517841	9:75,355,075	G/A	—	uncertain significance
rs1391895910	9:75,355,077	G/T	—	conflicting classifications of pathogenicity
rs11143384	9:75,355,093	C/T	—	conflicting classifications of pathogenicity
rs1345080270	9:75,355,094	G/A	—	uncertain significance
rs2489806744	9:75,355,107	T/C	—	likely benign
rs534560340	9:75,355,120	G/A	—	uncertain significance

Showing 100 of 593 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.