TOR1A

torsin family 1 member A

Summary

The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [provided by RefSeq, Jul 2008]

Known Variants175 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs13283584	9:132,574,862	C/T	downstream gene variant	—
rs886063518	9:132,575,241	T/C	—	uncertain significance
rs144267898	9:132,575,249	G/A	—	benign
rs533151187	9:132,575,254	C/T	—	uncertain significance
rs79201718	9:132,575,290	A/T	—	benign
rs148723028	9:132,575,303	G/A	—	benign
rs760680759	9:132,575,317	T/C	—	uncertain significance
rs144572721	9:132,575,321	A/T	—	likely benign
rs1320561279	9:132,575,372	G/T	—	uncertain significance
rs999329085	9:132,575,419	C/T	—	uncertain significance
rs77889648	9:132,575,420	G/A	—	benign
rs886063519	9:132,575,439	G/C	—	uncertain significance
rs147959623	9:132,575,466	C/T	—	uncertain significance
rs886063520	9:132,575,628	G/A	—	uncertain significance
rs1045441	9:132,575,797	A/T	—	benign
rs186581792	9:132,575,835	A/C	—	benign
rs199964594	9:132,575,837	C/A	—	benign
rs886063521	9:132,575,906	G/A	—	uncertain significance
rs886063522	9:132,576,035	G/A	—	uncertain significance
rs1183	9:132,576,037	G/C	—	benign
rs1275657167	9:132,576,050	C/T	—	uncertain significance
rs151084518	9:132,576,058	C/T	—	likely benign
rs1182	9:132,576,060	C/A	downstream gene variant	benign
rs886063523	9:132,576,086	C/T	—	uncertain significance
rs886063524	9:132,576,102	C/T	—	uncertain significance
rs75881350	9:132,576,139	C/G	—	likely benign
rs1277544205	9:132,576,143	C/G	—	uncertain significance
rs1260567316	9:132,576,254	A/G	—	likely benign
rs767839320	9:132,576,257	A/G	—	likely benign
rs147805267	9:132,576,259	C/T	—	uncertain significance
rs148849547	9:132,576,260	G/A	—	conflicting classifications of pathogenicity
rs80358235	9:132,576,267	—	—	uncertain significance
rs2030965160	9:132,576,286	C/T	—	uncertain significance
rs1476648522	9:132,576,288	G/A	—	uncertain significance
rs2131001171	9:132,576,292	T/C	—	pathogenic
rs2030965698	9:132,576,298	C/T	—	pathogenic
rs1564181992	9:132,576,301	T/C	—	uncertain significance
rs2030966521	9:132,576,315	C/T	—	uncertain significance
rs755468081	9:132,576,320	C/T	—	likely benign
rs2131001227	9:132,576,323	T/G	—	likely benign
rs2030967244	9:132,576,334	A/C	—	uncertain significance
rs1189133538	9:132,576,356	G/A	—	likely benign
rs143571401	9:132,576,364	T/C	—	uncertain significance
rs1223607142	9:132,576,370	C/A	—	uncertain significance
rs774259802	9:132,576,375	A/G	—	likely benign
rs2490554162	9:132,576,377	T/A	—	uncertain significance
rs771733739	9:132,576,384	C/T	—	uncertain significance
rs727502811	9:132,576,387	C/T	missense variant	pathogenic
rs760768475	9:132,576,388	G/A	—	pathogenic
rs766483672	9:132,576,390	G/T	—	uncertain significance
rs188191403	9:132,576,392	C/T	—	likely benign
rs1297344700	9:132,576,394	G/A	—	likely pathogenic
rs753220814	9:132,576,406	G/A	—	likely pathogenic
rs943753139	9:132,576,414	A/G	—	uncertain significance
rs148036363	9:132,576,427	T/C	—	conflicting classifications of pathogenicity
rs750125951	9:132,576,430	A/T	—	uncertain significance
rs141709230	9:132,576,431	T/C	—	benign
rs144903607	9:132,576,437	G/C	—	likely benign
rs1400969632	9:132,576,463	T/G	—	uncertain significance
rs771932392	9:132,576,472	G/A	—	uncertain significance
rs201368848	9:132,576,481	A/C	—	uncertain significance
rs1053723616	9:132,576,483	C/G	—	uncertain significance
rs2490554528	9:132,576,490	G/C	—	uncertain significance
rs200937403	9:132,576,504	G/A	—	uncertain significance
rs2131001424	9:132,576,506	G/A	—	likely benign
rs72755217	9:132,576,512	G/T	—	benign
rs13294595	9:132,576,665	C/A	—	benign
rs2031090507	9:132,580,532	A/T	—	uncertain significance
rs765713432	9:132,580,565	G/A	—	likely benign
rs13297609	9:132,580,686	G/C	—	benign
rs770029036	9:132,580,780	G/A	—	likely benign
rs764569880	9:132,580,789	C/T	—	likely benign
rs2490563082	9:132,580,798	C/T	—	likely pathogenic
rs753511091	9:132,580,803	C/A	—	uncertain significance
rs561132082	9:132,580,810	T/C	—	uncertain significance
rs753283496	9:132,580,818	C/T	—	likely benign
rs368894467	9:132,580,819	G/A	—	uncertain significance
rs530037930	9:132,580,821	C/T	—	likely benign
rs377358943	9:132,580,828	A/G	—	uncertain significance
rs138737975	9:132,580,831	G/A	—	uncertain significance
rs749398276	9:132,580,833	G/A	—	likely benign
rs146054409	9:132,580,840	A/G	—	uncertain significance
rs552034333	9:132,580,860	T/C	—	likely benign
rs2490563303	9:132,580,873	C/T	—	uncertain significance
rs1801968	9:132,580,901	C/G	missense variant	risk factor
rs534094628	9:132,580,903	G/A	—	uncertain significance
rs370981658	9:132,580,910	T/C	—	uncertain significance
rs757198237	9:132,580,918	C/T	—	uncertain significance
rs749506176	9:132,580,944	T/C	—	likely benign
rs149514221	9:132,580,967	T/A	—	likely benign
rs180782681	9:132,581,004	T/C	—	likely benign
rs748292862	9:132,581,018	C/T	—	conflicting classifications of pathogenicity
rs2031105353	9:132,581,021	T/A	—	uncertain significance
rs2490563544	9:132,581,023	C/T	—	uncertain significance
rs267607134	9:132,581,031	A/T	missense variant	pathogenic
rs2131004651	9:132,581,035	G/A	—	likely benign
rs886041099	9:132,581,063	T/A	—	not provided
rs375911966	9:132,581,064	C/A	—	uncertain significance
rs115847158	9:132,581,083	G/A	—	likely benign
rs2031107641	9:132,581,101	A/G	—	likely benign

Showing 100 of 175 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.