PLCB3

phospholipase C beta 3

Summary

This gene encodes a member of the phosphoinositide phospholipase C beta enzyme family that catalyze the production of the secondary messengers diacylglycerol and inositol 1,4,5-triphosphate from phosphatidylinositol in G-protein-linked receptor-mediated signal transduction. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

Known Variants61 total

rsidPosition (GRCh37)AllelesClassClinVar
rs249523603511:64,019,134C/A—uncertain significance
rs249523604311:64,019,135A/G—likely benign
rs76966710711:64,019,138C/T—uncertain significance
rs57697284211:64,019,228C/T—benign
rs77397904411:64,021,951C/T—uncertain significance
rs14923150611:64,022,222G/A—benign
rs249525314311:64,022,418C/G—uncertain significance
rs19964536311:64,022,873C/T—likely benign
rs14388771711:64,022,913C/T—benign
rs37672266111:64,023,032G/A—uncertain significance
rs77340951511:64,023,044C/T—uncertain significance
rs77176267611:64,023,057C/T—uncertain significance
rs75556594911:64,023,907A/G—uncertain significance
rs77105910211:64,023,943C/T—uncertain significance
rs794398811:64,023,971G/Asynonymous variant—
rs76449915411:64,023,978G/A—uncertain significance
rs249526680011:64,024,188C/T—uncertain significance
rs75971134911:64,026,094C/G—uncertain significance
rs203166615611:64,026,100C/T—uncertain significance
rs75854899611:64,026,103G/A—uncertain significance
rs224462111:64,026,219C/Tregulatory region variant—
rs14703660511:64,026,408C/T—likely benign
rs76553248311:64,026,572G/T—uncertain significance
rs203170076311:64,026,600G/A—uncertain significance
rs75342854311:64,026,683T/C—uncertain significance
rs2839588211:64,026,685C/Gsynonymous variant—
rs37049197511:64,026,695G/A—uncertain significance
rs130197884611:64,026,702C/G—uncertain significance
rs77649034111:64,027,562G/C—uncertain significance
rs76983026611:64,027,618A/G—uncertain significance
rs75541644311:64,027,624T/C—uncertain significance
rs11787482611:64,027,666C/A—benign
rs93102092211:64,029,064T/C—uncertain significance
rs140109315311:64,029,086T/C—uncertain significance
rs75027147011:64,029,508C/T—likely benign
rs90122824511:64,029,509G/A—uncertain significance
rs7350018111:64,029,555C/A—benign
rs37722065111:64,029,963C/T—uncertain significance
rs14550245511:64,031,030G/A—likely benign
rs37271226011:64,031,174G/A—likely benign
rs3516979911:64,031,241T/C—benign
rs249530746711:64,031,561G/A—uncertain significance
rs76069590311:64,031,564G/T—likely pathogenic
rs20026363111:64,031,571T/C—uncertain significance
rs14190581511:64,032,481C/T—likely benign
rs53843743011:64,032,529C/A—benign
rs76657608411:64,032,670G/A—uncertain significance
rs203205351511:64,032,681A/C—uncertain significance
rs14805992211:64,033,391G/C—benign
rs135624550411:64,033,423T/G—uncertain significance
rs77514893911:64,033,437G/A—uncertain significance
rs77402282311:64,033,459G/A—uncertain significance
rs76455281411:64,033,643C/G—uncertain significance
rs20170095811:64,033,804A/G—uncertain significance
rs74915032811:64,033,840C/T—uncertain significance
rs14116368511:64,034,734G/T—uncertain significance
rs77545176811:64,034,878G/A—likely benign
rs124349574711:64,034,928G/C—uncertain significance
rs148113085011:64,034,944T/G—uncertain significance
rs14632707411:64,034,960G/A—likely benign
rs147238208311:64,034,963C/G—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.