ATN1

atrophin 1

Summary

Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-35 copies to 49-93 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. [provided by RefSeq, Jul 2016]

Known Variants158 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs148043196	12:7,032,656	G/A	upstream gene variant	—
rs7310941	12:7,033,592	G/A	regulatory region variant	—
rs1945456497	12:7,040,291	A/G	—	uncertain significance
rs150902512	12:7,040,806	G/A	—	—
rs371722337	12:7,043,397	C/T	—	likely benign
rs1555143321	12:7,043,457	A/C	—	uncertain significance
rs782070350	12:7,043,635	G/A	—	uncertain significance
rs781848314	12:7,043,673	G/A	—	uncertain significance
rs1475025445	12:7,043,716	A/G	—	likely benign
rs782062902	12:7,044,711	A/G	—	uncertain significance
rs2542616680	12:7,044,725	C/A	—	uncertain significance
rs149260210	12:7,044,787	C/T	—	likely benign
rs147993402	12:7,044,838	C/T	—	conflicting classifications of pathogenicity
rs1945521873	12:7,044,897	C/T	—	uncertain significance
rs781827807	12:7,044,915	C/G	—	uncertain significance
rs1555143468	12:7,044,926	C/G	—	uncertain significance
rs142325562	12:7,044,942	C/T	—	likely benign
rs144111044	12:7,044,943	G/A	—	benign
rs199585821	12:7,044,960	G/A	—	conflicting classifications of pathogenicity
rs115226639	12:7,044,966	C/T	—	likely benign
rs2542618239	12:7,044,978	T/G	—	uncertain significance
rs201262663	12:7,044,983	C/G	—	uncertain significance
rs782798047	12:7,045,006	T/C	—	likely benign
rs1945524266	12:7,045,024	G/A	—	uncertain significance
rs139874082	12:7,045,074	C/T	—	likely benign
rs149811742	12:7,045,127	A/G	—	likely benign
rs200232074	12:7,045,136	A/C	—	likely benign
rs782605849	12:7,045,140	G/T	—	uncertain significance
rs139909258	12:7,045,160	G/T	—	uncertain significance
rs782237952	12:7,045,167	G/A	—	uncertain significance
rs145331713	12:7,045,168	C/A	—	likely benign
rs148694613	12:7,045,178	G/A	—	benign
rs1591662710	12:7,045,188	A/C	—	uncertain significance
rs1555143546	12:7,045,190	C/A	—	uncertain significance
rs201165264	12:7,045,254	C/T	—	likely benign
rs1555143574	12:7,045,255	G/A	—	likely benign
rs782682486	12:7,045,286	C/T	—	uncertain significance
rs781966372	12:7,045,296	C/T	—	uncertain significance
rs201762823	12:7,045,305	C/G	—	likely benign
rs781797208	12:7,045,326	C/T	—	uncertain significance
rs1945530357	12:7,045,369	A/G	—	likely benign
rs2542621063	12:7,045,394	G/A	—	uncertain significance
rs1311484058	12:7,045,424	C/T	—	uncertain significance
rs782062831	12:7,045,435	G/A	—	uncertain significance
rs202113252	12:7,045,487	G/T	—	uncertain significance
rs782609349	12:7,045,497	C/T	—	uncertain significance
rs1173002949	12:7,045,509	C/T	—	uncertain significance
rs138480639	12:7,045,531	A/G	—	benign
rs2542621926	12:7,045,536	C/T	—	uncertain significance
rs371878798	12:7,045,566	G/T	—	uncertain significance
rs1555143672	12:7,045,620	C/T	—	uncertain significance
rs1555143674	12:7,045,623	C/T	—	uncertain significance
rs1555143679	12:7,045,631	G/A	—	uncertain significance
rs1591663247	12:7,045,638	A/G	—	uncertain significance
rs781987472	12:7,045,695	A/G	—	uncertain significance
rs782528418	12:7,045,755	C/T	—	uncertain significance
rs369265872	12:7,045,779	G/A	—	likely benign
rs143104309	12:7,045,822	C/T	—	likely benign
rs1555143728	12:7,045,856	G/A	—	uncertain significance
rs148778647	12:7,045,876	C/G	—	uncertain significance
rs879960521	12:7,045,885	A/G	—	likely benign
rs150855426	12:7,045,891	A/G	—	conflicting classifications of pathogenicity
rs782565332	12:7,045,894	G/A	—	likely benign
rs782253884	12:7,045,897	G/A	—	likely benign
rs2542625326	12:7,045,899	A/G	—	uncertain significance
rs142596770	12:7,045,927	G/A	—	likely benign
rs146578563	12:7,045,939	T/C	—	uncertain significance
rs781928351	12:7,045,971	C/T	—	likely benign
rs782288066	12:7,045,980	A/G	—	conflicting classifications of pathogenicity
rs782402665	12:7,045,986	T/C	—	uncertain significance
rs782126642	12:7,046,016	C/G	—	uncertain significance
rs1555143826	12:7,046,034	C/A	—	uncertain significance
rs11547602	12:7,046,077	A/G	—	benign
rs782211379	12:7,046,090	A/G	—	uncertain significance
rs781836406	12:7,046,148	A/G	—	uncertain significance
rs782457075	12:7,046,153	T/A	—	uncertain significance
rs782655344	12:7,046,154	C/A	—	uncertain significance
rs200905097	12:7,046,182	A/G	—	likely benign
rs2542627784	12:7,046,195	T/A	—	uncertain significance
rs1945551404	12:7,046,217	G/A	—	uncertain significance
rs782778482	12:7,046,220	C/T	—	uncertain significance
rs1369150661	12:7,046,229	C/T	—	uncertain significance
rs1732895932	12:7,046,282	A/G	—	uncertain significance
rs199903899	12:7,046,290	C/T	—	likely benign
rs150801397	12:7,046,295	C/G	—	conflicting classifications of pathogenicity
rs375960570	12:7,046,328	C/T	—	likely benign
rs1466783462	12:7,046,345	T/A	—	uncertain significance
rs1591664597	12:7,046,357	G/A	—	uncertain significance
rs781939581	12:7,046,372	G/A	—	uncertain significance
rs2542628890	12:7,046,391	C/T	—	uncertain significance
rs112842935	12:7,046,398	A/C	—	likely benign
rs1555143939	12:7,046,444	G/C	—	uncertain significance
rs1945559466	12:7,046,451	G/A	—	uncertain significance
rs781916549	12:7,046,496	C/T	—	uncertain significance
rs781870732	12:7,046,514	G/A	—	uncertain significance
rs2542629756	12:7,046,520	T/C	—	uncertain significance
rs782583903	12:7,046,587	G/A	—	likely benign
rs781828877	12:7,046,588	C/T	—	uncertain significance
rs898441901	12:7,046,664	G/T	—	uncertain significance
rs1046932020	12:7,046,690	G/A	—	conflicting classifications of pathogenicity

Showing 100 of 158 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.