LIPN

lipase family member N

Summary

The gene encodes a lipase that is highly expressed in granular keratinocytes in the epidermis, and plays a role in the differentiation of keratinocytes. Mutations in this gene are associated with lamellar ichthyosis type 4. [provided by RefSeq, Dec 2011]

Known Variants82 total

rsidPosition (GRCh37)AllelesClassClinVar
rs30346510:90,520,847T/G—benign
rs75646877710:90,521,197T/C—uncertain significance
rs184299502310:90,521,211A/G—uncertain significance
rs98122105010:90,521,220G/T—uncertain significance
rs133656894510:90,521,226C/G—uncertain significance
rs92834783410:90,521,271G/A—uncertain significance
rs37455311510:90,521,275G/C—uncertain significance
rs44359110:90,521,520G/C—benign
rs30346610:90,521,616G/A—benign
rs115835180810:90,521,945A/G—uncertain significance
rs11179073210:90,521,946G/A—uncertain significance
rs99121613610:90,521,985A/G—uncertain significance
rs37374966710:90,522,009A/G—uncertain significance
rs78144688510:90,522,058C/G—uncertain significance
rs249405368510:90,522,075T/C—likely benign
rs84378210:90,522,182T/C—benign
rs74586131210:90,524,186T/G—uncertain significance
rs20099815310:90,524,233A/T—uncertain significance
rs43051710:90,524,237T/C—benign
rs155482800510:90,524,241G/A—uncertain significance
rs77193390810:90,524,248T/C—uncertain significance
rs97796005710:90,524,265G/A—uncertain significance
rs36755500110:90,524,275A/T—uncertain significance
rs249406143810:90,524,280G/A—uncertain significance
rs37193491910:90,524,295A/T—uncertain significance
rs20006949210:90,524,298C/A—likely benign
rs4128408810:90,524,335T/C—benign
rs39812610:90,524,412A/T—benign
rs791222210:90,524,456G/A—benign
rs41827610:90,524,543G/A—benign
rs1050955410:90,525,792T/C—benign
rs36964260710:90,526,046A/G—uncertain significance
rs37428470410:90,526,095G/T—uncertain significance
rs122076285310:90,526,120C/G—uncertain significance
rs76752756210:90,526,138A/G—uncertain significance
rs6185400410:90,526,345T/A—benign
rs40278110:90,526,379C/T—benign
rs45001110:90,528,499C/T—benign
rs37642649310:90,528,534C/T—likely benign
rs20110885010:90,528,612G/A—likely benign
rs43861210:90,528,992G/T—benign
rs159018001210:90,530,598A/G—likely benign
rs20113581710:90,530,612G/C—uncertain significance
rs54921967910:90,530,637T/G—uncertain significance
rs77915097210:90,530,644A/G—uncertain significance
rs76049871410:90,530,652A/T—likely benign
rs1078861110:90,530,660A/C—benign
rs76466877110:90,530,669G/A—uncertain significance
rs11473771310:90,530,683C/T—benign
rs37684009510:90,530,700C/T—benign
rs15016704810:90,530,701G/A—likely benign
rs76055397710:90,530,704T/A—uncertain significance
rs3471085010:90,530,930C/T—benign
rs30347010:90,534,085A/T—benign
rs3416573210:90,534,135G/A—benign
rs13907421010:90,534,210C/A—benign
rs37269338510:90,534,234G/A—uncertain significance
rs213485993710:90,534,244G/A—likely benign
rs55309129110:90,534,283C/T—benign
rs30347110:90,534,698G/A—benign
rs1120284910:90,534,759G/A—benign
rs30347210:90,534,787T/G—benign
rs133978110:90,534,814C/T—benign
rs1241235710:90,534,893C/T—benign
rs117135187410:90,534,917T/A—uncertain significance
rs3459317610:90,534,968A/G—benign
rs30347310:90,535,040T/C—benign
rs30348410:90,537,732C/T—benign
rs37526962910:90,537,762A/G—likely benign
rs54954101910:90,537,801A/C—uncertain significance
rs75360148810:90,537,829C/T—uncertain significance
rs77870411310:90,537,832G/A—uncertain significance
rs56952947710:90,537,841G/A—likely benign
rs144518592010:90,537,847C/T—uncertain significance
rs7857473210:90,537,864G/C—benign
rs77646181710:90,537,894C/A—uncertain significance
rs184332714210:90,537,902T/G—uncertain significance
rs4128409210:90,537,910T/G—likely benign
rs119352111910:90,537,914G/A—uncertain significance
rs125057362910:90,537,931G/T—uncertain significance
rs1120285110:90,537,942C/T—benign
rs30348510:90,538,020A/G—benign

Gene information from NCBI Gene. Variant classifications from ClinVar.