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

Gene information from NCBI Gene. Variant classifications from ClinVar.