ASAH1

N-acylsphingosine amidohydrolase 1

Summary

This gene encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. Processing of this preproprotein generates alpha and beta subunits that heterodimerize to form the mature lysosomal enzyme, which catalyzes the degradation of ceramide into sphingosine and free fatty acid. This enzyme is overexpressed in multiple human cancers and may play a role in cancer progression. Mutations in this gene are associated with the lysosomal storage disorder, Farber lipogranulomatosis, and a neuromuscular disorder, spinal muscular atrophy with progressive myoclonic epilepsy. [provided by RefSeq, Oct 2015]

Known Variants731 total

rsidPosition (GRCh37)AllelesClassClinVar
rs283933658:17,913,940G/A—benign
rs75088:17,913,970G/A3 prime UTR variantbenign
rs9347300708:17,914,047G/A—uncertain significance
rs5530212998:17,914,082T/C—uncertain significance
rs8860627768:17,914,110A/G—uncertain significance
rs70027318:17,914,111G/A—benign
rs38108:17,914,117G/T—benign
rs8913426798:17,914,158A/G—uncertain significance
rs7778311428:17,914,249T/C—uncertain significance
rs67698:17,914,305G/C—benign
rs67708:17,914,314A/G—benign
rs4039108:17,914,348A/G—benign
rs67718:17,914,356G/C—benign
rs8860627778:17,914,357A/G—uncertain significance
rs1478404388:17,914,425G/A—likely benign
rs10125295018:17,914,426A/T—uncertain significance
rs8860627788:17,914,542A/G—uncertain significance
rs5467629838:17,914,584A/G—uncertain significance
rs8973747598:17,914,670G/A—uncertain significance
rs171261818:17,914,675G/A—likely benign
rs1414438568:17,914,687G/C—likely benign
rs13161385778:17,914,690G/A—uncertain significance
rs1151274118:17,914,709C/T—benign
rs5425581698:17,914,751G/C—uncertain significance
rs4053088:17,914,799G/A—benign
rs5294682278:17,914,821A/T—uncertain significance
rs715261828:17,914,843G/A—likely benign
rs5741148:17,914,859A/T—benign
rs8860627798:17,914,865T/C—uncertain significance
rs8789186798:17,914,872A/G—uncertain significance
rs8860627808:17,914,879A/T—uncertain significance
rs5747748:17,914,883A/G—benign
rs1169192008:17,914,907C/T—uncertain significance
rs4176618:17,914,919A/T—benign
rs1816162688:17,914,940C/T—uncertain significance
rs3710083538:17,915,018C/T—uncertain significance
rs17995230528:17,915,049A/C—likely benign
rs3768317628:17,915,053A/C—uncertain significance
rs7465136608:17,915,056C/T—likely pathogenic
rs3730122798:17,915,062T/C—uncertain significance
rs8791078678:17,915,065G/C—uncertain significance
rs1389123398:17,915,072C/T—uncertain significance
rs7695871378:17,915,074C/T—likely pathogenic
rs7730258868:17,915,075G/A—uncertain significance
rs3683456128:17,915,077A/G—uncertain significance
rs7707729098:17,915,078G/A—conflicting classifications of pathogenicity
rs21170111578:17,915,082A/G—likely benign
rs1489764898:17,915,087C/T—uncertain significance
rs3759831418:17,915,088G/A—likely benign
rs21170112108:17,915,089A/G—uncertain significance
rs7595947228:17,915,091T/A—uncertain significance
rs25379092238:17,915,093G/A—uncertain significance
rs5487609138:17,915,094A/T—likely benign
rs13276446378:17,915,098T/A—uncertain significance
rs25379092638:17,915,100G/A—likely benign
rs21170113148:17,915,105C/T—uncertain significance
rs7644632798:17,915,111T/C—uncertain significance
rs7541401978:17,915,112C/T—likely benign
rs14622890918:17,915,114A/C—uncertain significance
rs2011511778:17,915,117T/C—uncertain significance
rs3701061658:17,915,121G/A—likely benign
rs7810190718:17,915,124T/A—conflicting classifications of pathogenicity
rs14714144058:17,915,125A/G—uncertain significance
rs176360678:17,915,126C/T—benign
rs3726614478:17,915,127G/T—likely benign
rs25379094808:17,915,129T/C—uncertain significance
rs14734083368:17,915,134T/C—uncertain significance
rs21170115768:17,915,139G/A—likely benign
rs25379095228:17,915,143A/C—likely benign
rs3765527398:17,915,144G/A—likely benign
rs13502011898:17,915,146T/C—likely benign
rs21170116238:17,915,147A/G—likely benign
rs7757047608:17,915,149T/G—likely benign
rs7610178638:17,915,150T/C—likely benign
rs1379226648:17,915,190C/T—likely benign
rs735816718:17,915,299T/C—benign
rs171261888:17,915,341A/G—benign
rs735816748:17,915,415C/T—benign
rs4206108:17,916,224C/A—benign
rs1137788378:17,916,308C/T—likely benign
rs1904766328:17,916,325C/T—likely benign
rs3766355198:17,916,326A/C—likely benign
rs21170152868:17,916,327T/C—likely benign
rs7669653748:17,916,328A/G—likely benign
rs12133783238:17,916,329T/C—likely benign
rs21170153178:17,916,333A/C—likely benign
rs1397099198:17,916,336T/C—likely benign
rs7638426778:17,916,343C/A—pathogenic
rs15889732028:17,916,346T/G—likely pathogenic
rs9642240378:17,916,348T/C—uncertain significance
rs17995728048:17,916,351A/G—uncertain significance
rs14843651198:17,916,353G/A—likely benign
rs21170154538:17,916,354A/C—uncertain significance
rs12376045418:17,916,356A/G—likely benign
rs15889732378:17,916,357G/C—pathogenic
rs15889732478:17,916,358G/T—likely pathogenic
rs3715207058:17,916,363G/A—uncertain significance
rs25379132468:17,916,364T/C—uncertain significance
rs7583709238:17,916,371G/A—likely benign
rs17995741448:17,916,378T/C—uncertain significance

Showing 100 of 731 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.