KCNQ5

potassium voltage-gated channel subfamily Q member 5

Summary

This gene is a member of the KCNQ potassium channel gene family that is differentially expressed in subregions of the brain and in skeletal muscle. The protein encoded by this gene yields currents that activate slowly with depolarization and can form heteromeric channels with the protein encoded by the KCNQ3 gene. Currents expressed from this protein have voltage dependences and inhibitor sensitivities in common with M-currents. They are also inhibited by M1 muscarinic receptor activation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

Known Variants618 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2481564750	6:73,331,919	T/C	—	pathogenic
rs549110435	6:73,331,924	C/A	—	conflicting classifications of pathogenicity
rs1446827633	6:73,331,925	G/T	—	conflicting classifications of pathogenicity
rs2481564953	6:73,331,931	A/G	—	uncertain significance
rs1037269066	6:73,331,935	G/C	—	likely benign
rs2154471206	6:73,331,936	G/A	—	uncertain significance
rs191331629	6:73,331,939	G/A	—	likely benign
rs764586130	6:73,331,940	G/A	—	uncertain significance
rs2481565291	6:73,331,950	C/T	—	likely benign
rs1250006993	6:73,331,953	C/T	—	likely benign
rs933885701	6:73,331,954	G/A	—	conflicting classifications of pathogenicity
rs2098915518	6:73,331,958	C/T	—	uncertain significance
rs1049687889	6:73,331,959	C/T	—	likely benign
rs1245708170	6:73,331,960	G/C	—	uncertain significance
rs889723978	6:73,331,962	G/T	—	likely benign
rs971617867	6:73,331,966	T/C	—	uncertain significance
rs1265096046	6:73,331,968	G/A	—	pathogenic
rs1449413875	6:73,331,978	G/T	—	uncertain significance
rs553979044	6:73,331,981	G/T	—	uncertain significance
rs1464881276	6:73,331,993	G/A	—	conflicting classifications of pathogenicity
rs2098915594	6:73,331,999	G/C	—	uncertain significance
rs1434358563	6:73,332,001	C/T	—	likely benign
rs952233278	6:73,332,002	G/T	—	uncertain significance
rs1258779237	6:73,332,004	G/A	—	likely benign
rs756542782	6:73,332,006	G/A	—	conflicting classifications of pathogenicity
rs1434168919	6:73,332,007	G/T	—	likely benign
rs764597630	6:73,332,019	C/T	—	likely benign
rs2481566609	6:73,332,022	C/T	—	likely benign
rs2154471216	6:73,332,024	T/A	—	benign
rs754377832	6:73,332,033	T/C	—	uncertain significance
rs3734212	6:73,332,040	G/C	—	benign
rs758462566	6:73,332,044	C/G	—	benign
rs1255021815	6:73,332,045	G/C	—	uncertain significance
rs1411976143	6:73,332,048	G/A	—	uncertain significance
rs1466330143	6:73,332,056	C/T	—	likely benign
rs976217756	6:73,332,064	C/T	—	likely benign
rs1010356552	6:73,332,066	C/T	—	benign
rs371997109	6:73,332,073	C/T	—	likely benign
rs1304012976	6:73,332,074	G/A	—	uncertain significance
rs2481567578	6:73,332,075	C/T	—	uncertain significance
rs1232973476	6:73,332,078	G/A	—	uncertain significance
rs980697551	6:73,332,079	G/A	—	likely benign
rs945245523	6:73,332,081	G/T	—	benign
rs749183115	6:73,332,082	C/A	—	likely benign
rs2154471220	6:73,332,089	C/G	—	uncertain significance
rs2481567786	6:73,332,092	C/T	—	likely benign
rs1175086950	6:73,332,101	G/C	—	uncertain significance
rs2154471221	6:73,332,103	C/T	—	likely benign
rs539676999	6:73,332,109	C/T	—	likely benign
rs1054960132	6:73,332,111	C/T	—	uncertain significance
rs1394174607	6:73,332,115	C/A	—	likely benign
rs952306997	6:73,332,116	A/T	—	uncertain significance
rs1188628105	6:73,332,117	C/G	—	benign
rs34821312	6:73,332,121	C/T	—	benign
rs1440088325	6:73,332,122	G/A	—	uncertain significance
rs2154471224	6:73,332,129	G/A	—	uncertain significance
rs2481568587	6:73,332,131	G/A	—	uncertain significance
rs1386640911	6:73,332,134	G/A	—	uncertain significance
rs1301904449	6:73,332,136	T/C	—	likely benign
rs754289629	6:73,332,141	T/G	—	uncertain significance
rs1294967121	6:73,332,142	G/C	—	likely benign
rs1229639037	6:73,332,148	G/C	—	uncertain significance
rs368594052	6:73,332,150	G/C	—	benign
rs576307777	6:73,332,153	G/T	—	benign
rs750955277	6:73,332,155	C/T	—	conflicting classifications of pathogenicity
rs2481569044	6:73,332,161	A/T	—	uncertain significance
rs2098915792	6:73,332,165	A/C	—	benign
rs1192867092	6:73,332,166	G/T	—	uncertain significance
rs2098915802	6:73,332,170	G/C	—	uncertain significance
rs2481569230	6:73,332,173	C/A	—	likely benign
rs2481569346	6:73,332,185	C/T	—	likely benign
rs2481569383	6:73,332,188	G/T	—	uncertain significance
rs972535124	6:73,332,194	C/T	—	uncertain significance
rs372427870	6:73,332,199	C/G	—	likely benign
rs749095570	6:73,332,205	C/T	—	likely benign
rs201796531	6:73,332,206	A/C	—	conflicting classifications of pathogenicity
rs2154471235	6:73,332,209	A/G	—	uncertain significance
rs2481569703	6:73,332,222	G/C	—	uncertain significance
rs2098915841	6:73,332,226	G/A	—	likely benign
rs1370793728	6:73,332,227	C/A	—	uncertain significance
rs1360828764	6:73,332,229	C/A	—	likely benign
rs778905319	6:73,332,235	C/A	—	likely benign
rs2154471240	6:73,332,243	G/T	—	uncertain significance
rs768431385	6:73,332,260	C/T	—	likely benign
rs776481727	6:73,332,268	C/A	—	uncertain significance
rs763878135	6:73,332,269	G/C	—	uncertain significance
rs201029880	6:73,332,271	G/A	—	likely benign
rs200515936	6:73,332,272	C/T	—	likely benign
rs150254819	6:73,332,283	C/T	—	likely benign
rs1252311880	6:73,332,284	C/T	—	uncertain significance
rs2481570428	6:73,332,293	G/C	—	uncertain significance
rs751641588	6:73,332,299	A/G	—	uncertain significance
rs2098915886	6:73,332,306	A/T	—	likely benign
rs2098915887	6:73,332,308	G/A	—	uncertain significance
rs751287194	6:73,332,309	C/T	—	conflicting classifications of pathogenicity
rs2154471245	6:73,332,325	C/A	—	likely benign
rs752931009	6:73,332,329	C/A	—	likely benign
rs112094298	6:73,401,964	A/G	intron variant	—
rs113813394	6:73,416,728	T/C	intron variant	—
rs115475489	6:73,418,694	C/A	intron variant	—

Showing 100 of 618 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.