USH1C

USH1 protein network component harmonin

Summary

This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

Known Variants1,096 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1216254308	11:17,515,452	A/G	—	uncertain significance
rs11827649	11:17,515,474	G/C	—	likely benign
rs886048057	11:17,515,503	T/G	—	uncertain significance
rs551263680	11:17,515,638	G/C	—	uncertain significance
rs1055581	11:17,515,668	T/C	—	benign
rs1055577	11:17,515,693	G/A	—	benign
rs886048058	11:17,515,739	G/A	—	uncertain significance
rs550402400	11:17,515,748	C/G	—	likely benign
rs534567723	11:17,515,762	G/C	—	uncertain significance
rs75815445	11:17,515,769	G/C	—	uncertain significance
rs552838747	11:17,515,784	G/A	—	uncertain significance
rs1055574	11:17,515,833	A/G	—	benign
rs16934270	11:17,515,837	G/A	—	likely benign
rs553257705	11:17,515,878	C/G	—	likely benign
rs148376296	11:17,515,883	C/A	—	conflicting classifications of pathogenicity
rs757572697	11:17,515,884	G/C	—	uncertain significance
rs1849167922	11:17,515,912	C/T	—	likely benign
rs1186199578	11:17,515,914	G/A	—	likely benign
rs1055121763	11:17,515,922	T/C	—	uncertain significance
rs747133793	11:17,515,924	C/T	—	uncertain significance
rs1219323712	11:17,515,926	G/A	—	uncertain significance
rs1405284596	11:17,515,929	G/C	—	likely benign
rs916434099	11:17,515,931	G/A	—	likely benign
rs2496960828	11:17,515,934	G/A	—	likely benign
rs2496960842	11:17,515,935	T/C	—	likely benign
rs1470197627	11:17,515,937	G/A	—	likely benign
rs1336090366	11:17,515,938	A/G	—	likely benign
rs2496960895	11:17,515,941	C/T	—	likely benign
rs201163249	11:17,515,943	G/A	—	likely benign
rs2072225	11:17,515,970	G/A	—	benign
rs2072226	11:17,516,029	A/G	—	benign
rs2072227	11:17,516,038	T/C	—	benign
rs7108947	11:17,516,183	T/C	—	benign
rs59196307	11:17,516,852	A/G	—	benign
rs12284437	11:17,516,936	G/T	—	benign
rs180973453	11:17,517,083	A/T	—	likely benign
rs727504552	11:17,517,104	C/T	—	likely benign
rs770103013	11:17,517,116	C/T	—	likely benign
rs368030248	11:17,517,136	G/A	—	likely benign
rs371856107	11:17,517,141	C/T	—	conflicting classifications of pathogenicity
rs201533059	11:17,517,154	C/T	—	likely benign
rs141591891	11:17,517,155	G/A	—	likely benign
rs56165709	11:17,517,160	C/T	—	conflicting classifications of pathogenicity
rs763367346	11:17,517,162	C/T	—	likely benign
rs374696855	11:17,517,180	C/T	—	likely benign
rs767767573	11:17,517,181	G/A	—	conflicting classifications of pathogenicity
rs749460267	11:17,517,186	G/A	—	likely benign
rs876658112	11:17,517,192	G/A	—	uncertain significance
rs199827989	11:17,517,194	G/T	—	uncertain significance
rs1385487954	11:17,517,203	T/C	—	likely benign
rs201308481	11:17,517,205	C/T	—	conflicting classifications of pathogenicity
rs200779709	11:17,517,220	A/C	—	conflicting classifications of pathogenicity
rs571304936	11:17,517,225	C/A	—	conflicting classifications of pathogenicity
rs78509055	11:17,517,232	T/C	—	likely benign
rs10832795	11:17,517,235	G/A	—	benign
rs754728458	11:17,517,270	C/T	—	likely benign
rs1859824	11:17,517,407	G/C	—	benign
rs2072229	11:17,518,180	T/C	—	benign
rs1403503253	11:17,518,286	G/A	—	likely benign
rs770609102	11:17,518,290	C/A	—	likely benign
rs1248343268	11:17,518,291	T/C	—	likely benign
rs1565016955	11:17,518,296	C/T	—	likely benign
rs1849261496	11:17,518,297	A/C	—	likely benign
rs1849261742	11:17,518,301	T/G	—	uncertain significance
rs1554953350	11:17,518,304	C/A	—	uncertain significance
rs1849261947	11:17,518,307	C/T	—	likely benign
rs1849262183	11:17,518,310	A/G	—	conflicting classifications of pathogenicity
rs776066773	11:17,518,311	T/C	—	uncertain significance
rs138123405	11:17,518,312	C/T	—	uncertain significance
rs143860238	11:17,518,313	G/A	—	likely benign
rs1488373963	11:17,518,316	A/T	—	uncertain significance
rs2496975355	11:17,518,322	C/T	—	likely benign
rs2496975378	11:17,518,326	G/C	—	uncertain significance
rs754015985	11:17,518,329	G/T	—	uncertain significance
rs761957144	11:17,518,331	G/T	—	uncertain significance
rs1467666832	11:17,518,337	G/A	—	likely benign
rs1156833982	11:17,518,338	G/A	—	uncertain significance
rs2496975560	11:17,518,343	C/T	—	likely benign
rs780784680	11:17,518,348	G/A	—	uncertain significance
rs752664316	11:17,518,349	G/A	—	likely benign
rs201644053	11:17,518,351	C/T	—	uncertain significance
rs34581703	11:17,518,352	G/A	—	likely benign
rs1565017125	11:17,518,361	C/A	—	pathogenic
rs778639497	11:17,518,365	G/A	—	likely benign
rs745443068	11:17,518,366	G/A	—	likely benign
rs1218397540	11:17,518,367	G/A	—	likely benign
rs2496975844	11:17,518,368	G/A	—	likely benign
rs772514718	11:17,518,375	C/T	—	likely benign
rs200919289	11:17,518,376	G/A	—	likely benign
rs1190925557	11:17,518,377	T/C	—	likely benign
rs1849265890	11:17,518,378	G/A	—	likely benign
rs200004245	11:17,518,401	G/A	—	likely benign
rs2072230	11:17,518,525	G/T	—	benign
rs78299106	11:17,519,535	C/T	—	likely benign
rs779818682	11:17,519,691	G/C	—	likely benign
rs1489664741	11:17,519,692	A/C	—	likely benign
rs2496982718	11:17,519,694	G/A	—	likely benign
rs2496982730	11:17,519,696	G/A	—	likely benign
rs2072232	11:17,519,697	C/G	—	likely benign
rs2496982770	11:17,519,698	C/T	—	likely benign

Showing 100 of 1,096 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.