ARSA

arylsulfatase A

Summary

The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010]

Known Variants857 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs11704557	22:51,061,199	G/T	—	likely benign
rs570115432	22:51,061,205	T/A	—	uncertain significance
rs117951552	22:51,061,257	G/A	—	uncertain significance
rs534387866	22:51,061,272	A/G	—	uncertain significance
rs2082610056	22:51,061,290	T/C	—	uncertain significance
rs187444411	22:51,061,314	C/T	—	uncertain significance
rs886057640	22:51,061,368	T/A	—	uncertain significance
rs911625206	22:51,061,439	G/T	—	uncertain significance
rs776085194	22:51,061,508	G/A	—	uncertain significance
rs568146327	22:51,061,536	G/A	—	uncertain significance
rs886057642	22:51,061,550	C/G	—	uncertain significance
rs886057643	22:51,061,586	C/T	—	uncertain significance
rs556167510	22:51,061,604	G/T	—	uncertain significance
rs2082615571	22:51,061,748	G/A	—	uncertain significance
rs56788262	22:51,061,804	T/C	—	benign
rs73172277	22:51,061,827	T/C	—	benign
rs183937648	22:51,061,859	C/T	—	uncertain significance
rs1330240384	22:51,061,861	G/A	—	uncertain significance
rs886057644	22:51,061,944	T/G	—	uncertain significance
rs886057645	22:51,061,946	C/G	—	uncertain significance
rs886057646	22:51,061,956	C/T	—	uncertain significance
rs886057647	22:51,061,997	T/G	—	uncertain significance
rs79823940	22:51,062,003	G/A	—	benign
rs6009939	22:51,062,051	G/T	—	benign
rs2082619608	22:51,062,096	G/A	—	uncertain significance
rs8142531	22:51,062,097	C/T	—	uncertain significance
rs184515588	22:51,062,098	G/C	—	uncertain significance
rs190478606	22:51,062,201	C/T	—	uncertain significance
rs76841085	22:51,062,204	A/G	—	benign
rs131717	22:51,062,222	C/G	—	benign
rs886057648	22:51,062,306	G/A	—	uncertain significance
rs6010033	22:51,062,335	A/C	—	uncertain significance
rs886057649	22:51,062,360	A/C	—	uncertain significance
rs868201030	22:51,062,361	A/C	—	uncertain significance
rs985590155	22:51,062,366	A/C	—	uncertain significance
rs867069706	22:51,062,367	C/A	—	uncertain significance
rs918518184	22:51,062,402	T/C	—	uncertain significance
rs775298785	22:51,062,416	C/A	—	uncertain significance
rs114833506	22:51,062,497	T/A	—	benign
rs185955658	22:51,062,500	C/A	—	uncertain significance
rs868511268	22:51,062,524	A/T	—	uncertain significance
rs886057650	22:51,062,561	G/A	—	uncertain significance
rs376910590	22:51,062,581	C/T	—	benign
rs5770805	22:51,062,654	T/C	—	benign
rs886057651	22:51,062,699	A/G	—	uncertain significance
rs7288050	22:51,062,718	T/C	—	benign
rs886057652	22:51,062,779	G/A	—	uncertain significance
rs115593886	22:51,062,796	G/C	—	benign
rs8142033	22:51,062,832	G/A	—	benign
rs191335867	22:51,062,844	G/A	—	uncertain significance
rs7288338	22:51,062,891	C/G	—	benign
rs886057653	22:51,062,930	A/G	—	uncertain significance
rs5770953	22:51,062,938	T/C	—	benign
rs778826401	22:51,062,948	C/T	—	uncertain significance
rs2082632282	22:51,062,949	C/A	—	uncertain significance
rs898694289	22:51,063,046	T/C	—	uncertain significance
rs141494339	22:51,063,070	T/C	—	likely benign
rs565093599	22:51,063,094	G/C	—	uncertain significance
rs1181265537	22:51,063,107	G/A	—	uncertain significance
rs986551305	22:51,063,160	A/C	—	uncertain significance
rs547501508	22:51,063,184	T/C	—	uncertain significance
rs1249327412	22:51,063,193	C/T	—	uncertain significance
rs182635438	22:51,063,231	T/C	—	uncertain significance
rs5741862	22:51,063,233	A/T	—	benign
rs780413907	22:51,063,241	G/A	—	uncertain significance
rs886057654	22:51,063,280	G/A	—	uncertain significance
rs2146714509	22:51,063,363	T/C	—	benign
rs537362532	22:51,063,382	G/C	—	uncertain significance
rs144366706	22:51,063,408	C/T	—	uncertain significance
rs886057655	22:51,063,443	G/T	—	uncertain significance
rs977218325	22:51,063,446	T/A	—	uncertain significance
rs886057656	22:51,063,448	G/C	—	uncertain significance
rs146160737	22:51,063,470	G/A	—	uncertain significance
rs1257271445	22:51,063,471	G/A	—	likely benign
rs6151429	22:51,063,477	T/C	3 prime UTR variant	pathogenic
rs2146715022	22:51,063,500	C/T	—	uncertain significance
rs377187248	22:51,063,558	C/T	—	conflicting classifications of pathogenicity
rs772710219	22:51,063,563	C/T	—	uncertain significance
rs2518320854	22:51,063,575	A/G	—	uncertain significance
rs2082640668	22:51,063,576	G/T	—	likely benign
rs2082640761	22:51,063,580	T/C	—	uncertain significance
rs1278738755	22:51,063,581	G/A	—	uncertain significance
rs764345345	22:51,063,587	C/A	—	uncertain significance
rs2146715350	22:51,063,591	G/A	—	likely benign
rs776953235	22:51,063,596	G/A	—	likely benign
rs762056118	22:51,063,603	A/G	—	likely benign
rs6151428	22:51,063,610	T/C	—	uncertain significance
rs878992768	22:51,063,611	G/A	—	uncertain significance
rs1250959266	22:51,063,614	G/A	—	uncertain significance
rs2518321076	22:51,063,615	G/C	—	likely benign
rs201085386	22:51,063,616	G/A	—	conflicting classifications of pathogenicity
rs1196939207	22:51,063,617	T/G	—	uncertain significance
rs1480775242	22:51,063,620	A/C	—	uncertain significance
rs144323513	22:51,063,623	C/T	—	uncertain significance
rs1060499585	22:51,063,631	C/T	—	uncertain significance
rs199476388	22:51,063,632	A/C	—	pathogenic
rs755974448	22:51,063,635	A/G	—	pathogenic
rs2146715555	22:51,063,636	G/T	—	likely benign
rs2518321231	22:51,063,639	C/T	—	likely benign
rs2146715572	22:51,063,640	T/C	—	uncertain significance

Showing 100 of 857 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.