SETX

senataxin

Summary

This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq, Jul 2008]

Known Variants1,491 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886063542	9:135,136,873	C/T	—	uncertain significance
rs886063543	9:135,136,987	A/G	—	uncertain significance
rs530469492	9:135,137,016	A/C	—	uncertain significance
rs73545065	9:135,137,120	A/G	—	likely benign
rs570456500	9:135,137,242	A/T	—	uncertain significance
rs1842428001	9:135,137,339	A/G	—	uncertain significance
rs997784	9:135,137,364	T/C	—	benign
rs545456048	9:135,137,394	A/G	—	likely benign
rs531640605	9:135,137,436	T/C	—	conflicting classifications of pathogenicity
rs886063545	9:135,137,490	T/A	—	uncertain significance
rs752950104	9:135,137,610	C/T	—	uncertain significance
rs552487555	9:135,137,611	G/A	—	uncertain significance
rs886063547	9:135,137,624	T/C	—	uncertain significance
rs1589593075	9:135,137,639	A/G	—	uncertain significance
rs556145432	9:135,137,823	C/T	—	conflicting classifications of pathogenicity
rs147200829	9:135,137,826	G/A	—	uncertain significance
rs963398615	9:135,137,904	T/C	—	uncertain significance
rs771853459	9:135,137,913	G/A	—	uncertain significance
rs75682594	9:135,137,926	C/A	—	likely benign
rs773351268	9:135,137,938	T/C	—	uncertain significance
rs886063548	9:135,138,092	C/T	—	uncertain significance
rs758582946	9:135,138,103	T/C	—	uncertain significance
rs1327797847	9:135,138,132	T/C	—	uncertain significance
rs1842460355	9:135,138,139	T/C	—	uncertain significance
rs561712582	9:135,138,172	G/C	—	uncertain significance
rs886063549	9:135,138,184	A/C	—	uncertain significance
rs886063550	9:135,138,193	T/A	—	uncertain significance
rs751833631	9:135,138,206	T/A	—	uncertain significance
rs116822064	9:135,138,256	C/G	—	benign
rs7025	9:135,138,258	C/T	—	benign
rs7875801	9:135,138,261	C/A	—	benign
rs72765812	9:135,138,338	A/G	—	benign
rs1842469257	9:135,138,344	G/A	—	uncertain significance
rs1388263414	9:135,138,393	T/C	—	uncertain significance
rs10491906	9:135,138,402	C/G	—	benign
rs138991890	9:135,138,478	A/G	—	uncertain significance
rs12349210	9:135,138,574	A/T	—	benign
rs1842477894	9:135,138,576	T/G	—	uncertain significance
rs182693244	9:135,138,638	C/T	—	uncertain significance
rs58327306	9:135,138,721	T/C	—	likely benign
rs573743210	9:135,138,735	A/G	—	uncertain significance
rs1354270999	9:135,138,757	G/A	—	uncertain significance
rs74975459	9:135,138,777	C/A	—	benign
rs17148857	9:135,138,909	A/G	—	benign
rs886063551	9:135,138,960	G/C	—	uncertain significance
rs11795382	9:135,139,000	G/A	—	benign
rs528924481	9:135,139,018	C/G	—	uncertain significance
rs11787894	9:135,139,064	G/T	—	benign
rs73661150	9:135,139,065	T/G	—	benign
rs139883935	9:135,139,078	T/A	—	benign
rs1285017063	9:135,139,135	C/T	—	uncertain significance
rs60760878	9:135,139,151	T/G	—	likely benign
rs117409290	9:135,139,275	C/A	—	likely benign
rs1056912	9:135,139,307	G/A	—	likely benign
rs575959163	9:135,139,360	T/C	—	conflicting classifications of pathogenicity
rs11545230	9:135,139,372	G/A	—	conflicting classifications of pathogenicity
rs114940532	9:135,139,426	A/C	—	likely benign
rs115351494	9:135,139,458	G/A	—	likely benign
rs1204954131	9:135,139,613	T/A	—	uncertain significance
rs754956426	9:135,139,619	G/A	—	uncertain significance
rs1227559043	9:135,139,624	T/C	—	uncertain significance
rs749325764	9:135,139,629	T/A	—	uncertain significance
rs752965176	9:135,139,643	T/C	—	uncertain significance
rs1085307585	9:135,139,665	C/A	—	uncertain significance
rs143798689	9:135,139,669	A/G	—	likely benign
rs200826214	9:135,139,670	G/A	—	likely benign
rs2131109746	9:135,139,675	C/T	—	uncertain significance
rs199921065	9:135,139,678	T/C	—	conflicting classifications of pathogenicity
rs2538818056	9:135,139,679	T/C	—	uncertain significance
rs567672087	9:135,139,681	T/C	—	conflicting classifications of pathogenicity
rs779793402	9:135,139,688	T/C	—	conflicting classifications of pathogenicity
rs745394467	9:135,139,693	T/C	—	conflicting classifications of pathogenicity
rs761431773	9:135,139,702	G/A	—	uncertain significance
rs1468917148	9:135,139,715	C/T	—	uncertain significance
rs377551874	9:135,139,716	G/A	—	likely benign
rs1014113627	9:135,139,717	G/A	—	uncertain significance
rs1471003365	9:135,139,719	A/G	—	likely benign
rs1842518697	9:135,139,732	T/C	—	uncertain significance
rs147986724	9:135,139,734	C/T	—	likely benign
rs80296256	9:135,139,746	G/A	—	conflicting classifications of pathogenicity
rs144706487	9:135,139,748	A/C	—	benign
rs112201716	9:135,139,755	G/A	—	likely benign
rs2538818579	9:135,139,761	T/A	—	uncertain significance
rs1315385196	9:135,139,765	C/A	—	conflicting classifications of pathogenicity
rs2538818723	9:135,139,777	T/C	—	likely benign
rs751816010	9:135,139,779	C/T	—	likely benign
rs536241867	9:135,139,785	C/T	—	likely benign
rs553413088	9:135,139,786	G/A	—	conflicting classifications of pathogenicity
rs141589525	9:135,139,790	C/A	—	conflicting classifications of pathogenicity
rs778362262	9:135,139,800	G/T	—	uncertain significance
rs1345262381	9:135,139,803	C/T	—	likely benign
rs1421049695	9:135,139,804	T/C	—	conflicting classifications of pathogenicity
rs922155637	9:135,139,807	C/A	—	uncertain significance
rs747616517	9:135,139,809	C/T	—	conflicting classifications of pathogenicity
rs979454428	9:135,139,817	C/T	—	uncertain significance
rs539033545	9:135,139,820	C/T	—	conflicting classifications of pathogenicity
rs3739927	9:135,139,826	T/C	—	benign
rs765888424	9:135,139,835	G/C	—	uncertain significance
rs1554801389	9:135,139,840	T/C	—	uncertain significance
rs200969620	9:135,139,841	C/T	—	uncertain significance

Showing 100 of 1,491 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.