CTSD

cathepsin D

Summary

This gene encodes a member of the A1 family of peptidases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the cathepsin D light and heavy chains, which heterodimerize to form the mature enzyme. This enzyme exhibits pepsin-like activity and plays a role in protein turnover and in the proteolytic activation of hormones and growth factors. Mutations in this gene play a causal role in neuronal ceroid lipofuscinosis-10 and may be involved in the pathogenesis of several other diseases, including breast cancer and possibly Alzheimer's disease. [provided by RefSeq, Nov 2015]

Known Variants610 total

rsidPosition (GRCh37)AllelesClassClinVar
rs57784214111:1,773,997G/C—uncertain significance
rs75153823411:1,774,039C/T—uncertain significance
rs14849056611:1,774,079G/A—uncertain significance
rs99161780311:1,774,082G/A—uncertain significance
rs883911:1,774,136G/T—benign
rs88604806111:1,774,159G/A—uncertain significance
rs53900321211:1,774,178G/T—uncertain significance
rs78068089411:1,774,224G/A—uncertain significance
rs55186761711:1,774,239G/A—uncertain significance
rs14085233211:1,774,330G/A—uncertain significance
rs77666288211:1,774,335C/T—uncertain significance
rs126247752211:1,774,343C/T—uncertain significance
rs91685497211:1,774,358T/C—uncertain significance
rs54296975511:1,774,375G/A—uncertain significance
rs88604806211:1,774,377G/C—uncertain significance
rs105082211:1,774,391G/A—uncertain significance
rs95594295411:1,774,403C/A—uncertain significance
rs11394025611:1,774,433C/T—benign
rs11252996811:1,774,445C/T—likely benign
rs52891184611:1,774,523G/C—uncertain significance
rs117674160011:1,774,533G/C—uncertain significance
rs55160735011:1,774,593C/A—likely benign
rs127638832611:1,774,600C/T—uncertain significance
rs100294063611:1,774,603C/T—uncertain significance
rs52777863111:1,774,616G/A—uncertain significance
rs37608778611:1,774,635C/T—uncertain significance
rs1221411:1,774,666C/T—benign
rs88604806311:1,774,675G/A—uncertain significance
rs20143472111:1,774,714C/T—benign
rs20161693511:1,774,716C/T—likely benign
rs74578479111:1,774,718C/T—likely benign
rs55641067611:1,774,719G/A—likely benign
rs37705763311:1,774,722C/T—likely benign
rs76828312711:1,774,723G/A—likely benign
rs105752140311:1,774,729G/C—likely benign
rs249381580911:1,774,733C/T—likely benign
rs156501839211:1,774,736G/C—likely benign
rs155496220211:1,774,737A/C—uncertain significance
rs141275393511:1,774,738G/A—uncertain significance
rs20030399311:1,774,740C/T—uncertain significance
rs76698747611:1,774,741G/A—uncertain significance
rs77274214811:1,774,742G/A—likely benign
rs184575356511:1,774,743G/C—uncertain significance
rs131653519511:1,774,744C/G—uncertain significance
rs55406287611:1,774,750C/T—uncertain significance
rs143911186711:1,774,751G/A—likely benign
rs19960394311:1,774,754G/A—likely benign
rs13873337711:1,774,757G/T—benign
rs249381589011:1,774,759C/T—uncertain significance
rs79605239911:1,774,761A/C—uncertain significance
rs75048988011:1,774,762C/A—uncertain significance
rs75601920411:1,774,763C/T—likely benign
rs77985840411:1,774,764C/G—uncertain significance
rs249381590511:1,774,766G/A—likely benign
rs249381591011:1,774,768T/C—uncertain significance
rs14755334411:1,774,770T/C—conflicting classifications of pathogenicity
rs79704513811:1,774,776C/Tmissense variantpathogenic
rs249381592011:1,774,778G/A—likely benign
rs116292664511:1,774,784C/T—likely benign
rs156501846811:1,774,787A/C—conflicting classifications of pathogenicity
rs77872405911:1,774,789T/C—uncertain significance
rs1155504011:1,774,790G/A—likely benign
rs249381594211:1,774,796G/T—likely benign
rs37453185111:1,774,797C/T—uncertain significance
rs37769635511:1,774,798G/A—uncertain significance
rs77272320411:1,774,801C/T—uncertain significance
rs37098552311:1,774,802G/C—uncertain significance
rs249381597811:1,774,808G/C—likely benign
rs20207333811:1,774,810C/T—uncertain significance
rs90040813511:1,774,811G/A—likely benign
rs76452203911:1,774,813C/T—uncertain significance
rs76207605411:1,774,814G/A—likely benign
rs76786317511:1,774,822T/C—uncertain significance
rs12191279011:1,774,823C/Gmissense variantpathogenic
rs103014866211:1,774,826G/C—likely benign
rs57352341511:1,774,832C/T—likely benign
rs14198130111:1,774,835G/A—likely benign
rs117748313011:1,774,836C/T—uncertain significance
rs141237642411:1,774,843G/T—uncertain significance
rs92976359311:1,774,844C/T—likely benign
rs142650990911:1,774,847G/A—likely benign
rs14582178011:1,774,850G/A—likely benign
rs79605239811:1,774,853C/G—uncertain significance
rs55734254911:1,774,856G/A—likely benign
rs145212447911:1,774,861T/C—uncertain significance
rs184575597911:1,774,867C/T—uncertain significance
rs77164729911:1,774,868G/A—likely benign
rs77728904911:1,774,871C/T—likely benign
rs74673318311:1,774,888C/T—uncertain significance
rs77032557611:1,774,889G/A—likely benign
rs184575628711:1,774,891C/A—uncertain significance
rs213365727811:1,774,892C/G—uncertain significance
rs13894012911:1,774,895C/T—likely benign
rs54536430211:1,774,896G/A—uncertain significance
rs249381615411:1,774,901C/T—uncertain significance
rs118477382911:1,774,905G/A—likely benign
rs14901957111:1,774,907C/T—likely benign
rs75059393311:1,774,908G/A—likely benign
rs123940543511:1,774,909G/A—likely benign
rs14363183611:1,774,911C/G—likely benign

Showing 100 of 610 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.