SCLT1

sodium channel and clathrin linker 1

Summary

This gene encodes an adaptor protein. Studies of a related gene in rat suggest that the encoded protein functions to link clathrin to the sodium channel protein type 10 subunit alpha protein. The encoded protein has also been identified as a component of distal appendages of centrioles that is necessary for ciliogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Known Variants388 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs774832066	4:129,805,633	T/A	—	uncertain significance
rs142473295	4:129,805,634	A/G	—	likely benign
rs757782994	4:129,805,653	C/A	—	likely benign
rs746196883	4:129,805,673	T/G	—	likely benign
rs758822949	4:129,809,819	G/A	—	likely benign
rs559136001	4:129,809,844	G/A	—	uncertain significance
rs2530085547	4:129,809,851	C/A	—	uncertain significance
rs2125921805	4:129,809,861	T/C	—	likely benign
rs2125921813	4:129,809,863	C/T	—	uncertain significance
rs774255275	4:129,809,873	T/C	—	likely benign
rs2530085662	4:129,809,874	A/G	—	uncertain significance
rs532919376	4:129,809,877	C/T	—	uncertain significance
rs531031008	4:129,809,878	G/A	—	uncertain significance
rs147272290	4:129,809,882	T/C	—	likely benign
rs760981423	4:129,809,894	G/C	—	likely benign
rs375967380	4:129,809,903	T/C	—	likely benign
rs201260499	4:129,809,905	G/C	—	uncertain significance
rs1202831622	4:129,809,912	T/C	—	likely benign
rs2530086166	4:129,809,926	C/A	—	pathogenic
rs2125921892	4:129,809,935	A/C	—	likely benign
rs1157558380	4:129,809,938	G/A	—	likely benign
rs1733273741	4:129,812,208	T/A	—	uncertain significance
rs1167276697	4:129,812,220	T/C	—	likely benign
rs1733275359	4:129,812,224	T/A	—	uncertain significance
rs150924676	4:129,812,229	A/G	—	likely benign
rs766763388	4:129,812,234	C/T	—	uncertain significance
rs752001813	4:129,812,238	T/A	—	uncertain significance
rs1479099522	4:129,812,246	G/A	—	pathogenic
rs777465945	4:129,812,249	A/G	—	uncertain significance
rs2530096383	4:129,812,263	G/T	—	uncertain significance
rs372975601	4:129,812,278	C/T	—	uncertain significance
rs115634955	4:129,812,279	G/C	—	uncertain significance
rs2530096537	4:129,812,286	C/T	—	likely benign
rs770099403	4:129,812,294	T/C	—	likely pathogenic
rs58335620	4:129,812,297	T/C	—	benign
rs766965828	4:129,812,312	A/C	—	likely benign
rs10010659	4:129,856,847	T/C	—	—
rs1737208790	4:129,857,817	T/A	—	uncertain significance
rs1320943184	4:129,857,819	T/C	—	uncertain significance
rs781164564	4:129,857,821	G/C	—	uncertain significance
rs747921376	4:129,857,824	T/C	—	likely benign
rs770189357	4:129,857,829	T/C	—	uncertain significance
rs773290066	4:129,857,839	T/C	—	likely benign
rs749447121	4:129,857,854	C/T	—	likely benign
rs373795627	4:129,857,855	G/A	—	uncertain significance
rs201991504	4:129,857,856	T/A	—	likely benign
rs1216929430	4:129,857,869	C/G	—	uncertain significance
rs572035718	4:129,857,882	T/C	—	uncertain significance
rs1579429825	4:129,857,887	T/C	—	likely benign
rs73850039	4:129,857,893	C/T	—	benign
rs1191212706	4:129,857,905	C/T	—	likely benign
rs116133992	4:129,857,935	A/G	—	benign
rs2530295841	4:129,857,937	C/A	—	uncertain significance
rs1737224394	4:129,857,938	T/C	—	likely benign
rs1347846930	4:129,857,941	C/A	—	uncertain significance
rs1277337652	4:129,857,944	C/T	—	likely benign
rs962391719	4:129,857,952	A/G	—	likely benign
rs771139314	4:129,857,953	T/C	—	likely benign
rs138052297	4:129,857,955	G/A	—	pathogenic
rs202114033	4:129,857,959	T/C	—	likely benign
rs962930772	4:129,857,966	C/T	—	uncertain significance
rs1246169596	4:129,857,967	C/T	—	uncertain significance
rs149400028	4:129,857,969	C/T	—	uncertain significance
rs201434760	4:129,857,970	G/A	—	uncertain significance
rs2530296108	4:129,857,973	C/T	—	uncertain significance
rs2530296189	4:129,857,978	A/T	—	uncertain significance
rs768908934	4:129,857,979	T/C	—	conflicting classifications of pathogenicity
rs1737229031	4:129,857,982	A/G	—	uncertain significance
rs751079883	4:129,858,002	C/T	—	uncertain significance
rs372271490	4:129,858,026	C/T	—	likely benign
rs2530332443	4:129,864,132	A/T	—	likely benign
rs1737835282	4:129,864,157	T/G	—	uncertain significance
rs1043717124	4:129,864,164	T/C	—	uncertain significance
rs2530332977	4:129,864,166	T/C	—	likely benign
rs774139322	4:129,864,168	T/C	—	uncertain significance
rs759187846	4:129,864,170	T/G	—	uncertain significance
rs144166835	4:129,864,186	T/A	—	uncertain significance
rs148288466	4:129,864,187	C/T	—	benign
rs1182733005	4:129,864,199	C/G	—	uncertain significance
rs780130683	4:129,864,204	T/A	—	uncertain significance
rs2530333802	4:129,864,206	T/C	—	uncertain significance
rs1179575367	4:129,864,208	T/C	—	likely benign
rs1312635867	4:129,864,212	C/T	—	uncertain significance
rs367930155	4:129,864,213	G/A	—	uncertain significance
rs2530334178	4:129,864,231	G/C	—	uncertain significance
rs200265959	4:129,864,238	T/C	—	likely benign
rs536059566	4:129,864,243	G/A	—	likely benign
rs2530334420	4:129,864,259	A/G	—	likely benign
rs764001067	4:129,864,266	C/A	—	uncertain significance
rs572560518	4:129,864,270	T/C	—	uncertain significance
rs77885682	4:129,864,275	C/T	—	benign
rs2125989701	4:129,864,283	C/T	—	likely benign
rs144333168	4:129,864,289	T/C	—	likely benign
rs2125989728	4:129,864,297	G/A	—	pathogenic
rs969767990	4:129,864,316	T/C	—	likely benign
rs371973931	4:129,864,323	C/T	—	uncertain significance
rs748697531	4:129,864,324	G/A	—	uncertain significance
rs889846876	4:129,864,329	A/T	—	uncertain significance
rs189433518	4:129,864,356	C/T	—	likely benign
rs775272790	4:129,864,357	G/A	—	likely benign

Showing 100 of 388 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.