PLAGL1

PLAG1 like zinc finger 1

Summary

This gene encodes a C2H2 zinc finger protein that functions as a suppressor of cell growth. This gene is often deleted or methylated and silenced in cancer cells. In addition, overexpression of this gene during fetal development is thought to be the causal factor for transient neonatal diabetes mellitus (TNDM). Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding two different protein isoforms. The P1 downstream promoter of this gene is imprinted, with preferential expression from the paternal allele in many tissues. [provided by RefSeq, Nov 2015]

Known Variants44 total

rsidPosition (GRCh37)AllelesClassClinVar
rs3703943166:144,262,588C/T—likely benign
rs25338528626:144,262,632G/A—uncertain significance
rs7682045886:144,262,700A/T—uncertain significance
rs3737575896:144,262,754T/C—uncertain significance
rs12907032136:144,262,779G/A—uncertain significance
rs178473316:144,262,783G/T—benign
rs1453862616:144,262,810G/T—likely benign
rs1450342486:144,262,816G/A—likely benign
rs725463046:144,262,819T/C—benign
rs2019573256:144,262,821G/C—uncertain significance
rs1386888046:144,262,930T/A—likely benign
rs14725595496:144,262,971T/C—uncertain significance
rs1470547736:144,263,042T/G—likely benign
rs178473306:144,263,068C/T—benign
rs12015233256:144,263,135T/C—uncertain significance
rs352630166:144,263,138G/A—benign
rs1492910806:144,263,140G/A—benign
rs14392458206:144,263,151G/A—likely benign
rs1427056556:144,263,234G/C—likely benign
rs178473286:144,263,274T/C—benign
rs2019771186:144,263,292G/T—uncertain significance
rs12221994146:144,263,296T/C—likely benign
rs3756799736:144,263,302C/G—uncertain significance
rs346528196:144,263,312T/C—benign
rs361206456:144,263,347A/G—benign
rs7600993656:144,263,438C/T—uncertain significance
rs7697375126:144,263,514G/T—uncertain significance
rs7778041986:144,263,521T/G—uncertain significance
rs170732296:144,263,524C/T—benign
rs178473276:144,263,532C/A—benign
rs7592697896:144,263,540T/A—uncertain significance
rs12219324656:144,263,556C/T—uncertain significance
rs12088467616:144,263,574G/T—uncertain significance
rs2017539296:144,263,586C/A—uncertain significance
rs7466607056:144,263,651T/G—uncertain significance
rs7683117186:144,263,652T/A—uncertain significance
rs17788694056:144,263,697G/C—uncertain significance
rs9008782466:144,263,719T/A—uncertain significance
rs10085812246:144,269,239G/A—uncertain significance
rs5399996946:144,269,265C/T—likely benign
rs69009236:144,298,200C/A——
rs93994696:144,318,529T/C——
rs776914166:144,354,119A/Cupstream gene variant—
rs746620856:144,354,125T/Cupstream gene variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.