DST

dystonin

Summary

This gene encodes a member of the plakin protein family of adhesion junction plaque proteins. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the full-length nature of some variants has not been defined. It has been reported that some isoforms are expressed in neural and muscle tissue, anchoring neural intermediate filaments to the actin cytoskeleton, and some isoforms are expressed in epithelial tissue, anchoring keratin-containing intermediate filaments to hemidesmosomes. Consistent with the expression, mice defective for this gene show skin blistering and neurodegeneration. [provided by RefSeq, Mar 2010]

Known Variants3,475 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs79455288	6:56,323,550	G/T	—	likely benign
rs956139209	6:56,323,823	C/T	—	uncertain significance
rs747867774	6:56,323,825	A/C	—	uncertain significance
rs769595354	6:56,323,827	T/C	—	likely benign
rs201891015	6:56,323,828	T/C	—	conflicting classifications of pathogenicity
rs2094188631	6:56,323,834	G/T	—	uncertain significance
rs2094188733	6:56,323,835	C/G	—	uncertain significance
rs2094189177	6:56,323,845	C/T	—	likely benign
rs199881276	6:56,323,854	C/T	—	likely benign
rs367598583	6:56,323,855	G/A	—	uncertain significance
rs1242078669	6:56,323,858	G/A	—	likely pathogenic
rs371464814	6:56,323,875	C/T	—	likely benign
rs2094190914	6:56,323,899	T/C	—	likely benign
rs375978950	6:56,323,900	C/T	—	uncertain significance
rs769636857	6:56,323,907	T/A	—	uncertain significance
rs777558951	6:56,323,912	C/G	—	conflicting classifications of pathogenicity
rs749163618	6:56,323,926	G/C	—	likely benign
rs771266784	6:56,323,939	T/G	—	uncertain significance
rs774765327	6:56,323,949	C/T	—	uncertain significance
rs1036786598	6:56,323,950	G/A	—	likely benign
rs2533176925	6:56,323,954	T/A	—	uncertain significance
rs1431243496	6:56,323,956	G/T	—	likely benign
rs369312019	6:56,323,996	C/T	—	uncertain significance
rs868335418	6:56,323,997	G/A	—	uncertain significance
rs2152366376	6:56,324,010	G/A	—	likely benign
rs962169183	6:56,324,013	G/A	—	uncertain significance
rs2152366408	6:56,324,026	C/T	—	uncertain significance
rs1404471548	6:56,324,031	T/C	—	uncertain significance
rs762220017	6:56,324,032	C/T	—	uncertain significance
rs765987178	6:56,324,040	T/A	—	likely benign
rs373455908	6:56,324,044	C/T	—	uncertain significance
rs1270744282	6:56,324,045	G/A	—	uncertain significance
rs1476392770	6:56,324,055	C/A	—	uncertain significance
rs1168581623	6:56,324,059	T/A	—	uncertain significance
rs2094197198	6:56,324,065	T/A	—	uncertain significance
rs559604901	6:56,324,071	G/A	—	conflicting classifications of pathogenicity
rs2152366533	6:56,324,073	A/G	—	likely benign
rs375160184	6:56,324,081	A/G	—	uncertain significance
rs9370531	6:56,324,179	A/G	—	benign
rs142108560	6:56,324,267	T/C	—	likely benign
rs2152370165	6:56,324,910	A/T	—	likely benign
rs1383084433	6:56,324,924	C/G	—	uncertain significance
rs148830617	6:56,324,936	C/T	—	benign
rs1009080138	6:56,324,940	G/A	—	uncertain significance
rs2152370299	6:56,324,950	T/C	—	uncertain significance
rs752238624	6:56,324,966	T/C	—	uncertain significance
rs2533205098	6:56,324,968	T/A	—	uncertain significance
rs764063449	6:56,324,977	T/C	—	uncertain significance
rs1444235196	6:56,324,979	T/C	—	uncertain significance
rs2094257033	6:56,324,982	T/G	—	uncertain significance
rs368992091	6:56,325,014	T/A	—	uncertain significance
rs372639720	6:56,325,024	C/T	—	uncertain significance
rs377080714	6:56,325,029	C/T	—	likely benign
rs2094258869	6:56,325,030	T/C	—	uncertain significance
rs1337269536	6:56,325,033	C/T	—	uncertain significance
rs370496665	6:56,325,044	T/C	—	likely benign
rs375362610	6:56,325,047	C/T	—	likely benign
rs532258725	6:56,325,048	G/A	—	uncertain significance
rs2152370482	6:56,325,054	T/C	—	likely pathogenic
rs2152370537	6:56,325,070	C/T	—	likely benign
rs79770432	6:56,327,699	C/T	—	likely benign
rs2094414094	6:56,327,837	A/C	—	likely benign
rs11758339	6:56,327,849	C/T	missense variant	benign
rs2152378922	6:56,327,853	T/A	—	likely benign
rs2533268467	6:56,327,854	G/A	—	uncertain significance
rs144012429	6:56,327,856	C/T	—	likely benign
rs774799170	6:56,327,858	C/T	—	uncertain significance
rs201991278	6:56,327,859	G/A	—	likely benign
rs201138592	6:56,327,879	C/A	—	conflicting classifications of pathogenicity
rs867730919	6:56,327,887	C/T	—	uncertain significance
rs1173189755	6:56,327,889	A/G	—	likely benign
rs1479060665	6:56,327,892	A/T	—	likely benign
rs1376076037	6:56,327,898	C/T	—	uncertain significance
rs751377992	6:56,327,899	A/G	—	uncertain significance
rs1035396080	6:56,327,917	C/G	—	uncertain significance
rs756227570	6:56,327,921	G/C	—	uncertain significance
rs1426250382	6:56,327,927	C/A	—	uncertain significance
rs771480926	6:56,327,929	T/C	—	uncertain significance
rs779080194	6:56,327,932	T/C	—	uncertain significance
rs746310021	6:56,327,935	C/T	—	uncertain significance
rs768405206	6:56,327,936	G/A	—	uncertain significance
rs2533269977	6:56,327,939	T/A	—	uncertain significance
rs375019954	6:56,327,950	A/G	—	uncertain significance
rs546355407	6:56,327,951	G/A	—	uncertain significance
rs1312420010	6:56,327,956	T/G	—	likely pathogenic
rs1218502975	6:56,327,962	G/A	—	likely benign
rs114556571	6:56,328,205	C/T	—	likely benign
rs764025757	6:56,328,345	C/T	—	uncertain significance
rs1472206822	6:56,328,359	T/C	—	uncertain significance
rs375303601	6:56,328,360	T/C	—	uncertain significance
rs2094441686	6:56,328,362	C/T	—	likely pathogenic
rs2533285844	6:56,328,363	C/G	—	uncertain significance
rs760819112	6:56,328,367	G/A	—	uncertain significance
rs557488147	6:56,328,368	G/A	—	uncertain significance
rs2094442057	6:56,328,372	G/T	—	likely benign
rs201952309	6:56,328,383	G/A	—	uncertain significance
rs2094442685	6:56,328,388	T/A	—	uncertain significance
rs374094129	6:56,328,390	T/G	—	benign
rs554371778	6:56,328,399	C/T	—	likely benign
rs750916776	6:56,328,400	G/A	—	uncertain significance

Showing 100 of 3,475 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.