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

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2495236035	11:64,019,134	C/A	—	uncertain significance
rs2495236043	11:64,019,135	A/G	—	likely benign
rs769667107	11:64,019,138	C/T	—	uncertain significance
rs576972842	11:64,019,228	C/T	—	benign
rs773979044	11:64,021,951	C/T	—	uncertain significance
rs149231506	11:64,022,222	G/A	—	benign
rs2495253143	11:64,022,418	C/G	—	uncertain significance
rs199645363	11:64,022,873	C/T	—	likely benign
rs143887717	11:64,022,913	C/T	—	benign
rs376722661	11:64,023,032	G/A	—	uncertain significance
rs773409515	11:64,023,044	C/T	—	uncertain significance
rs771762676	11:64,023,057	C/T	—	uncertain significance
rs755565949	11:64,023,907	A/G	—	uncertain significance
rs771059102	11:64,023,943	C/T	—	uncertain significance
rs7943988	11:64,023,971	G/A	synonymous variant	—
rs764499154	11:64,023,978	G/A	—	uncertain significance
rs2495266800	11:64,024,188	C/T	—	uncertain significance
rs759711349	11:64,026,094	C/G	—	uncertain significance
rs2031666156	11:64,026,100	C/T	—	uncertain significance
rs758548996	11:64,026,103	G/A	—	uncertain significance
rs2244621	11:64,026,219	C/T	regulatory region variant	—
rs147036605	11:64,026,408	C/T	—	likely benign
rs765532483	11:64,026,572	G/T	—	uncertain significance
rs2031700763	11:64,026,600	G/A	—	uncertain significance
rs753428543	11:64,026,683	T/C	—	uncertain significance
rs28395882	11:64,026,685	C/G	synonymous variant	—
rs370491975	11:64,026,695	G/A	—	uncertain significance
rs1301978846	11:64,026,702	C/G	—	uncertain significance
rs776490341	11:64,027,562	G/C	—	uncertain significance
rs769830266	11:64,027,618	A/G	—	uncertain significance
rs755416443	11:64,027,624	T/C	—	uncertain significance
rs117874826	11:64,027,666	C/A	—	benign
rs931020922	11:64,029,064	T/C	—	uncertain significance
rs1401093153	11:64,029,086	T/C	—	uncertain significance
rs750271470	11:64,029,508	C/T	—	likely benign
rs901228245	11:64,029,509	G/A	—	uncertain significance
rs73500181	11:64,029,555	C/A	—	benign
rs377220651	11:64,029,963	C/T	—	uncertain significance
rs145502455	11:64,031,030	G/A	—	likely benign
rs372712260	11:64,031,174	G/A	—	likely benign
rs35169799	11:64,031,241	T/C	—	benign
rs2495307467	11:64,031,561	G/A	—	uncertain significance
rs760695903	11:64,031,564	G/T	—	likely pathogenic
rs200263631	11:64,031,571	T/C	—	uncertain significance
rs141905815	11:64,032,481	C/T	—	likely benign
rs538437430	11:64,032,529	C/A	—	benign
rs766576084	11:64,032,670	G/A	—	uncertain significance
rs2032053515	11:64,032,681	A/C	—	uncertain significance
rs148059922	11:64,033,391	G/C	—	benign
rs1356245504	11:64,033,423	T/G	—	uncertain significance
rs775148939	11:64,033,437	G/A	—	uncertain significance
rs774022823	11:64,033,459	G/A	—	uncertain significance
rs764552814	11:64,033,643	C/G	—	uncertain significance
rs201700958	11:64,033,804	A/G	—	uncertain significance
rs749150328	11:64,033,840	C/T	—	uncertain significance
rs141163685	11:64,034,734	G/T	—	uncertain significance
rs775451768	11:64,034,878	G/A	—	likely benign
rs1243495747	11:64,034,928	G/C	—	uncertain significance
rs1481130850	11:64,034,944	T/G	—	uncertain significance
rs146327074	11:64,034,960	G/A	—	likely benign
rs1472382083	11:64,034,963	C/G	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.