APTX

aprataxin

Summary

This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010]

Known Variants221 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs772290850	9:32,972,638	G/C	—	uncertain significance
rs770908697	9:32,972,662	G/C	—	uncertain significance
rs113556331	9:32,972,690	C/T	—	conflicting classifications of pathogenicity
rs115295647	9:32,972,740	C/T	—	likely benign
rs530692252	9:32,972,860	G/A	—	uncertain significance
rs775131687	9:32,972,886	C/G	—	uncertain significance
rs111430445	9:32,972,890	C/T	—	conflicting classifications of pathogenicity
rs545625482	9:32,972,891	C/T	—	uncertain significance
rs754188583	9:32,973,020	G/A	—	uncertain significance
rs138490250	9:32,973,042	C/G	—	likely benign
rs886063857	9:32,973,133	G/A	—	uncertain significance
rs563055303	9:32,973,186	C/T	—	uncertain significance
rs532688347	9:32,973,203	G/C	—	likely benign
rs568783017	9:32,973,281	C/G	—	uncertain significance
rs113638548	9:32,973,309	C/G	—	conflicting classifications of pathogenicity
rs148292963	9:32,973,355	C/T	—	likely benign
rs2489292448	9:32,973,517	G/A	—	likely benign
rs1828537508	9:32,973,522	G/A	—	uncertain significance
rs886044599	9:32,973,536	G/T	—	uncertain significance
rs141493373	9:32,973,554	T/A	—	conflicting classifications of pathogenicity
rs374053126	9:32,973,565	A/G	—	likely benign
rs1424953679	9:32,973,566	T/A	—	uncertain significance
rs371292546	9:32,973,572	C/T	—	uncertain significance
rs373961930	9:32,973,573	G/A	—	uncertain significance
rs1047315004	9:32,973,576	G/A	—	uncertain significance
rs1303395150	9:32,973,577	G/A	—	likely benign
rs754791634	9:32,973,579	G/A	—	uncertain significance
rs1828559926	9:32,973,581	A/G	—	uncertain significance
rs770357057	9:32,973,610	G/C	—	likely benign
rs776170265	9:32,973,618	C/T	—	uncertain significance
rs1828577602	9:32,973,623	C/A	—	uncertain significance
rs376003639	9:32,973,625	A/T	—	likely benign
rs1018257998	9:32,973,626	G/A	—	uncertain significance
rs1587330671	9:32,973,651	C/T	—	pathogenic
rs904293109	9:32,973,652	T/C	—	pathogenic
rs759989689	9:32,973,653	G/A	—	uncertain significance
rs34683066	9:32,973,777	C/T	—	benign
rs115278454	9:32,973,858	C/T	—	likely benign
rs4878522	9:32,974,372	C/T	—	benign
rs758243711	9:32,974,439	C/G	—	likely benign
rs751303502	9:32,974,442	G/C	—	uncertain significance
rs1260560154	9:32,974,446	C/T	—	uncertain significance
rs2489304887	9:32,974,456	C/T	—	uncertain significance
rs756794044	9:32,974,457	T/C	—	uncertain significance
rs768982333	9:32,974,476	T/C	—	uncertain significance
rs1828846033	9:32,974,477	C/T	—	uncertain significance
rs104894103	9:32,974,493	C/T	stop gained	pathogenic
rs773393618	9:32,974,495	A/G	missense variant	pathogenic
rs371095360	9:32,974,496	A/G	—	likely benign
rs144893610	9:32,974,516	A/G	—	uncertain significance
rs1828859707	9:32,974,521	G/A	—	uncertain significance
rs752700668	9:32,974,534	G/A	—	pathogenic
rs121908132	9:32,974,542	A/C	missense variant	pathogenic
rs1324748344	9:32,974,551	T/C	—	uncertain significance
rs1250575593	9:32,974,553	T/G	—	likely benign
rs763987865	9:32,974,557	T/C	—	uncertain significance
rs751250105	9:32,974,564	T/C	—	conflicting classifications of pathogenicity
rs112308472	9:32,974,664	T/A	—	likely benign
rs147397654	9:32,974,678	T/C	—	likely benign
rs113312514	9:32,974,842	C/T	—	likely benign
rs10758176	9:32,974,885	C/T	—	benign
rs10971259	9:32,978,806	C/G	—	—
rs3780475	9:32,984,391	A/G	—	benign
rs114281856	9:32,984,582	C/T	—	likely benign
rs111392103	9:32,984,619	C/A	—	conflicting classifications of pathogenicity
rs1587434917	9:32,984,620	C/T	—	likely benign
rs771854083	9:32,984,622	G/C	—	likely benign
rs571475924	9:32,984,637	C/T	—	conflicting classifications of pathogenicity
rs368000346	9:32,984,638	G/A	—	uncertain significance
rs765982141	9:32,984,646	G/A	—	likely benign
rs141195622	9:32,984,657	A/T	—	conflicting classifications of pathogenicity
rs142133683	9:32,984,659	C/T	—	uncertain significance
rs778258042	9:32,984,660	G/A	—	pathogenic
rs747334007	9:32,984,665	C/T	—	conflicting classifications of pathogenicity
rs863223909	9:32,984,674	C/T	—	uncertain significance
rs1831475804	9:32,984,675	T/C	—	uncertain significance
rs2489448574	9:32,984,679	C/T	—	likely benign
rs775694819	9:32,984,680	C/A	—	uncertain significance
rs749338153	9:32,984,689	T/C	—	uncertain significance
rs1114167423	9:32,984,702	T/A	—	pathogenic
rs2118681567	9:32,984,705	C/A	—	pathogenic
rs180809113	9:32,984,709	C/T	—	benign
rs765961138	9:32,984,719	A/G	—	uncertain significance
rs1401646824	9:32,984,720	T/C	—	uncertain significance
rs267606665	9:32,984,731	A/G	missense variant	pathogenic
rs754477154	9:32,984,732	G/A	missense variant	pathogenic
rs1292709317	9:32,984,757	C/T	—	likely benign
rs2118684383	9:32,984,764	C/A	—	uncertain significance
rs773181115	9:32,984,766	G/T	—	likely benign
rs140355580	9:32,984,781	C/A	—	conflicting classifications of pathogenicity
rs121908131	9:32,984,782	G/A	missense variant	pathogenic
rs121908133	9:32,984,797	T/C	missense variant	pathogenic
rs150886026	9:32,984,803	C/T	—	likely benign
rs778965012	9:32,984,804	G/A	—	uncertain significance
rs748165574	9:32,984,806	G/A	—	likely pathogenic
rs539119129	9:32,984,813	G/A	—	uncertain significance
rs146506430	9:32,984,814	G/A	—	likely benign
rs2489459841	9:32,984,837	C/A	—	uncertain significance
rs770579215	9:32,984,840	G/A	—	pathogenic
rs1587436804	9:32,984,841	C/T	—	likely benign

Showing 100 of 221 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.