CLCNKA

chloride voltage-gated channel Ka

Summary

This gene is a member of the CLC family of voltage-gated chloride channels. The encoded protein is predicted to have 12 transmembrane domains, and requires a beta subunit called barttin to form a functional channel. It is thought to function in salt reabsorption in the kidney and potassium recycling in the inner ear. The gene is highly similar to CLCNKB, which is located 10 kb downstream from this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants180 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs7523558	1:16,346,732	G/A	upstream gene variant	—
rs6660685	1:16,346,988	A/T	—	—
rs28579893	1:16,347,534	A/T	—	—
rs115449577	1:16,348,831	G/A	—	likely benign
rs3738637	1:16,349,080	G/A	—	benign
rs371201410	1:16,349,122	A/C	—	uncertain significance
rs773206825	1:16,349,131	G/A	—	uncertain significance
rs9442189	1:16,349,137	A/G	—	benign
rs2524289620	1:16,349,142	G/T	—	uncertain significance
rs202069201	1:16,349,169	C/T	—	conflicting classifications of pathogenicity
rs373577135	1:16,349,188	G/A	—	uncertain significance
rs760650251	1:16,349,200	G/A	—	uncertain significance
rs139590893	1:16,349,224	A/G	—	benign
rs61771056	1:16,349,336	C/T	—	benign
rs111821117	1:16,349,454	T/C	—	likely benign
rs9442214	1:16,349,460	T/C	—	benign
rs111470804	1:16,349,550	G/T	—	likely benign
rs2017583	1:16,350,028	A/G	—	benign
rs2017577	1:16,350,123	C/G	—	benign
rs57147817	1:16,350,162	C/T	—	benign
rs140752147	1:16,350,182	C/T	—	likely benign
rs1537803	1:16,350,262	A/G	—	benign
rs35932996	1:16,350,328	G/A	—	likely benign
rs545282688	1:16,350,334	G/T	—	uncertain significance
rs2022239095	1:16,350,405	A/G	—	likely benign
rs774646606	1:16,350,415	T/A	—	uncertain significance
rs200509489	1:16,350,417	G/T	—	benign
rs79241444	1:16,350,633	T/G	—	likely benign
rs61771057	1:16,350,692	G/C	—	benign
rs3897353	1:16,350,955	T/C	—	benign
rs9442190	1:16,351,137	C/G	—	benign
rs9442215	1:16,351,206	C/T	—	benign
rs113490606	1:16,351,243	C/T	—	benign
rs1570296786	1:16,351,261	A/C	—	uncertain significance
rs121909137	1:16,351,268	G/C	missense variant	pathogenic
rs10927887	1:16,351,275	A/G	missense variant	benign
rs116627786	1:16,351,338	G/A	—	likely benign
rs751412273	1:16,351,354	G/A	—	uncertain significance
rs41269165	1:16,351,486	C/G	—	benign
rs61299694	1:16,352,486	C/A	—	benign
rs11584665	1:16,352,492	G/A	—	benign
rs116036032	1:16,352,547	T/C	—	likely benign
rs115351575	1:16,352,730	C/T	—	benign
rs1010069	1:16,352,937	G/A	regulatory region variant	benign
rs2022358548	1:16,353,082	C/T	—	uncertain significance
rs1169904119	1:16,353,083	G/T	—	uncertain significance
rs1160980171	1:16,353,107	A/G	—	uncertain significance
rs751638580	1:16,353,199	G/C	—	uncertain significance
rs9442216	1:16,353,400	C/T	—	benign
rs111900551	1:16,353,415	C/A	—	benign
rs67179509	1:16,353,482	G/A	—	benign
rs10927888	1:16,353,511	T/C	—	likely benign
rs67785192	1:16,353,526	C/T	—	benign
rs112380901	1:16,353,747	C/A	—	benign
rs184855200	1:16,353,776	G/A	regulatory region variant	—
rs147305058	1:16,353,849	C/T	—	likely benign
rs201977074	1:16,353,896	A/G	—	likely benign
rs387907406	1:16,353,902	G/C	—	uncertain significance
rs387907407	1:16,353,903	C/T	—	uncertain significance
rs771050808	1:16,353,918	A/G	—	uncertain significance
rs138578392	1:16,353,926	G/A	—	likely benign
rs121909138	1:16,353,927	C/T	stop gained	pathogenic
rs10927889	1:16,354,280	G/C	—	benign
rs57016480	1:16,354,281	C/G	—	benign
rs1570303524	1:16,354,374	T/G	—	likely benign
rs1490795516	1:16,354,393	G/A	—	uncertain significance
rs200268763	1:16,354,394	C/T	—	likely benign
rs200325856	1:16,354,505	C/T	—	benign
rs1486642291	1:16,354,514	G/T	—	uncertain significance
rs777748952	1:16,354,526	G/A	—	likely benign
rs138110172	1:16,354,581	C/T	—	conflicting classifications of pathogenicity
rs376669628	1:16,354,586	C/T	—	uncertain significance
rs12126269	1:16,354,590	A/T	—	benign
rs1264450372	1:16,354,596	C/A	—	uncertain significance
rs746879594	1:16,354,600	A/G	—	likely benign
rs12138073	1:16,354,958	C/T	—	benign
rs12130496	1:16,354,964	G/A	—	benign
rs201309731	1:16,355,249	C/G	—	conflicting classifications of pathogenicity
rs369441598	1:16,355,251	C/A	—	likely benign
rs529781416	1:16,355,271	C/T	—	likely benign
rs45588635	1:16,355,287	C/G	—	likely benign
rs143253425	1:16,355,292	C/T	—	likely benign
rs576409174	1:16,355,324	A/G	—	likely benign
rs780643767	1:16,355,338	C/T	—	uncertain significance
rs45451292	1:16,355,425	G/A	—	benign
rs7366320	1:16,355,525	G/A	—	benign
rs181589868	1:16,355,613	C/T	—	likely benign
rs45457595	1:16,355,614	G/A	—	benign
rs79751787	1:16,355,638	T/A	—	benign
rs778060639	1:16,355,644	C/A	—	uncertain significance
rs146831535	1:16,355,653	C/T	—	likely benign
rs370754460	1:16,355,670	C/T	—	likely benign
rs387907405	1:16,355,714	G/T	—	uncertain significance
rs58150371	1:16,355,728	T/G	—	benign
rs1553124800	1:16,355,744	C/T	—	uncertain significance
rs371912383	1:16,355,749	G/A	—	likely benign
rs574988239	1:16,355,750	C/T	—	uncertain significance
rs61151066	1:16,355,856	G/C	—	benign
rs34398185	1:16,355,877	G/A	—	benign
rs1972359	1:16,356,187	C/T	—	benign

Showing 100 of 180 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.