ARSD

arylsulfatase D

Summary

The protein encoded by this gene is a member of the sulfatase family. Sulfatases are essential for the correct composition of bone and cartilage matrix. The encoded protein is postranslationally glycosylated and localized to the lysosome. This gene is located within a cluster of similar arylsulfatase genes on chromosome X. A related pseudogene has been identified in the pseudoautosomal region of chromosome Y. [provided by RefSeq, Jul 2011]

Known Variants57 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1211009840X:2,825,359G/A—uncertain significance
rs2228433X:2,825,363G/A—benign
rs201828808X:2,825,478G/T—uncertain significance
rs200785812X:2,825,479C/T—uncertain significance
rs2519472884X:2,825,496G/C—uncertain significance
rs747115406X:2,825,512G/A—uncertain significance
rs200569213X:2,825,581C/T—uncertain significance
rs2229557X:2,825,596C/T—benign
rs768877786X:2,825,626C/T—uncertain significance
rs192794144X:2,825,665C/T—uncertain significance
rs757272441X:2,826,765C/G—uncertain significance
rs2088876638X:2,826,786C/T—uncertain significance
rs138030490X:2,827,930C/T—benign
rs746453494X:2,827,976C/T—uncertain significance
rs139484145X:2,832,668A/G—likely benign
rs113031742X:2,832,696T/C—likely benign
rs73632953X:2,832,715T/C—likely benign
rs73632954X:2,832,787A/G—likely benign
rs111939179X:2,833,605C/T—likely benign
rs1240525630X:2,833,606A/C—uncertain significance
rs373216270X:2,833,628A/C—likely benign
rs377542415X:2,833,631A/G—likely benign
rs370769167X:2,833,638C/T—likely benign
rs115332247X:2,833,643C/A—likely benign
rs1354804234X:2,833,662G/A—uncertain significance
rs2519486895X:2,833,683A/G—uncertain significance
rs2519486930X:2,833,705G/C—likely benign
rs146636025X:2,833,720G/A—uncertain significance
rs78034736X:2,835,863G/T—likely benign
rs756337460X:2,835,935A/G—uncertain significance
rs143238998X:2,835,989A/C—likely benign
rs150899882X:2,835,995C/A—likely benign
rs211653X:2,836,037G/C—benign
rs67272620X:2,836,041A/T—likely benign
rs67359049X:2,836,047C/T—likely benign
rs1488292276X:2,836,065C/G—uncertain significance
rs373076877X:2,836,093C/A—uncertain significance
rs747015336X:2,836,097G/T—uncertain significance
rs376322458X:2,836,115G/A—uncertain significance
rs2088988479X:2,836,164T/G—uncertain significance
rs73632975X:2,836,181A/T—likely benign
rs73632976X:2,836,184C/T—likely benign
rs73632977X:2,836,211A/T—likely benign
rs73632978X:2,836,238G/A—likely benign
rs1453802640X:2,836,266T/G—uncertain significance
rs759669373X:2,838,756C/T—uncertain significance
rs151213601X:2,840,009G/A—uncertain significance
rs1378195046X:2,840,052C/T—uncertain significance
rs754641237X:2,840,060G/A—uncertain significance
rs1637781X:2,843,139T/G——
rs1200074059X:2,843,673C/T—uncertain significance
rs1386167342X:2,843,709C/T—uncertain significance
rs759116005X:2,843,762G/A—uncertain significance
rs202070019X:2,843,789A/G—uncertain significance
rs975306385X:2,847,291C/T—uncertain significance
rs2518304981X:2,847,310A/G—uncertain significance
rs6567682X:2,848,409T/A——

Gene information from NCBI Gene. Variant classifications from ClinVar.