ARSL

arylsulfatase L

Summary

Arylsulfatase E is a member of the sulfatase family. It is glycosylated postranslationally and localized to the golgi apparatus. Sulfatases are essential for the correct composition of bone and cartilage matrix. X-linked chondrodysplasia punctata, a disease characterized by abnormalities in cartilage and bone development, has been linked to mutations in this gene. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the Y chromosome. [provided by RefSeq, Sep 2013]

Known Variants363 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs146382452	X:2,852,599	C/G	—	benign
rs139314733	X:2,852,602	C/T	—	benign
rs5982927	X:2,852,706	A/G	—	benign
rs753500701	X:2,852,884	C/T	—	uncertain significance
rs80338714	X:2,852,900	C/T	stop gained	pathogenic
rs28935474	X:2,852,911	G/A	missense variant	pathogenic
rs11055	X:2,852,915	C/T	—	benign
rs886041135	X:2,852,932	G/A	stop gained	pathogenic
rs776153736	X:2,852,939	C/T	—	benign
rs142375403	X:2,852,949	A/C	—	conflicting classifications of pathogenicity
rs11222	X:2,852,951	G/A	—	benign
rs1057523183	X:2,852,957	C/G	—	likely benign
rs2089175161	X:2,852,971	G/T	—	uncertain significance
rs1372178914	X:2,852,978	A/G	—	likely benign
rs2089175667	X:2,852,984	G/A	—	likely benign
rs772926810	X:2,852,990	T/A	—	likely benign
rs2147342476	X:2,853,000	T/A	—	uncertain significance
rs2518311107	X:2,853,008	C/T	—	likely benign
rs752401423	X:2,853,010	C/T	—	uncertain significance
rs751521450	X:2,853,011	C/T	—	likely benign
rs753971115	X:2,853,014	C/T	—	conflicting classifications of pathogenicity
rs1458028473	X:2,853,017	C/T	—	likely benign
rs2518311202	X:2,853,023	T/C	—	likely benign
rs369409927	X:2,853,024	C/T	—	likely benign
rs1335931206	X:2,853,025	G/A	—	pathogenic
rs1603461557	X:2,853,032	C/T	—	likely benign
rs376111412	X:2,853,046	C/T	—	conflicting classifications of pathogenicity
rs758889321	X:2,853,047	G/A	—	likely benign
rs747510606	X:2,853,062	T/C	—	likely benign
rs747699123	X:2,853,093	G/A	—	uncertain significance
rs2518311445	X:2,853,098	G/C	—	uncertain significance
rs772908873	X:2,853,118	C/T	—	uncertain significance
rs762734231	X:2,853,119	G/A	—	likely benign
rs2518311556	X:2,853,125	G/T	—	likely benign
rs75821383	X:2,853,146	C/T	—	likely benign
rs1417395196	X:2,853,147	G/A	—	uncertain significance
rs772699055	X:2,853,164	A/G	—	likely benign
rs122460155	X:2,853,168	C/T	missense variant	pathogenic
rs1555908040	X:2,853,172	C/T	—	uncertain significance
rs762393900	X:2,853,175	C/T	—	conflicting classifications of pathogenicity
rs1329604316	X:2,853,176	G/A	—	likely benign
rs993209695	X:2,853,182	C/G	—	uncertain significance
rs1322974082	X:2,853,185	T/C	—	likely benign
rs2089179479	X:2,853,187	G/A	—	uncertain significance
rs780330895	X:2,853,200	C/G	—	likely benign
rs80338713	X:2,853,201	G/A	missense variant	uncertain significance
rs2518311905	X:2,853,206	A/G	—	likely benign
rs1217150288	X:2,853,209	G/A	—	likely benign
rs41308353	X:2,853,212	G/T	—	likely benign
rs2089180172	X:2,853,221	C/G	—	uncertain significance
rs755373707	X:2,853,224	T/C	—	conflicting classifications of pathogenicity
rs143775522	X:2,853,225	G/T	—	likely benign
rs2518312070	X:2,853,247	T/A	—	likely benign
rs55974713	X:2,853,283	G/A	—	benign
rs2518315955	X:2,854,769	G/T	—	likely benign
rs773973077	X:2,854,770	C/T	—	likely benign
rs61743737	X:2,854,786	C/G	—	likely benign
rs761977883	X:2,854,789	G/A	—	conflicting classifications of pathogenicity
rs2518316019	X:2,854,790	T/C	—	likely benign
rs765445435	X:2,854,800	C/G	—	uncertain significance
rs1131691809	X:2,854,807	C/T	—	pathogenic
rs183018622	X:2,854,808	G/A	—	likely benign
rs2518316128	X:2,854,826	A/G	—	likely benign
rs763217030	X:2,854,832	C/T	—	likely benign
rs538693483	X:2,854,835	C/G	—	likely benign
rs766628992	X:2,854,837	G/A	—	likely benign
rs1191336105	X:2,854,844	G/A	—	likely benign
rs1428847578	X:2,854,856	T/C	—	likely benign
rs886041134	X:2,854,894	C/T	missense variant	pathogenic
rs777219380	X:2,854,895	G/A	—	likely benign
rs60088229	X:2,854,949	C/T	—	likely benign
rs5982928	X:2,855,175	G/C	—	benign
rs5982929	X:2,855,199	T/C	—	benign
rs145227232	X:2,855,838	T/G	—	benign
rs149169623	X:2,855,866	T/C	—	likely benign
rs375386476	X:2,856,127	G/A	—	benign
rs1555908420	X:2,856,130	C/G	—	likely benign
rs2147349066	X:2,856,135	C/T	—	pathogenic
rs2518319536	X:2,856,141	C/T	—	likely benign
rs768735666	X:2,856,149	C/A	—	uncertain significance
rs377070602	X:2,856,153	G/A	—	likely benign
rs35143646	X:2,856,155	C/T	—	benign
rs201122295	X:2,856,156	G/A	—	likely benign
rs944277473	X:2,856,159	C/T	—	likely benign
rs758398497	X:2,856,160	G/A	—	conflicting classifications of pathogenicity
rs137882432	X:2,856,166	C/T	—	likely benign
rs778253985	X:2,856,167	G/A	—	uncertain significance
rs751548925	X:2,856,173	C/T	—	conflicting classifications of pathogenicity
rs2089229219	X:2,856,174	G/A	—	likely benign
rs142382411	X:2,856,186	G/T	—	uncertain significance
rs369695084	X:2,856,198	C/T	—	likely benign
rs1341359606	X:2,856,199	G/A	—	likely pathogenic
rs1272438892	X:2,856,206	C/A	—	likely pathogenic
rs758104330	X:2,856,207	G/T	—	likely benign
rs779945606	X:2,856,221	C/T	—	uncertain significance
rs2518319977	X:2,856,222	G/A	—	likely benign
rs746830733	X:2,856,225	C/T	—	likely benign
rs372359634	X:2,856,226	G/A	—	conflicting classifications of pathogenicity
rs749325947	X:2,856,233	C/T	—	likely benign
rs201424543	X:2,856,236	C/T	—	conflicting classifications of pathogenicity

Showing 100 of 363 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.