PLCH2

phospholipase C eta 2

Summary

PLCH2 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave PtdIns(4,5) P2 to generate second messengers inositol 1,4,5-trisphosphate and diacylglycerol (Zhou et al., 2005 [PubMed 16107206]).[supplied by OMIM, Jun 2009]

Known Variants172 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs568455465	1:2,349,032	A/G	—	—
rs2494638	1:2,372,133	G/C	—	—
rs74049259	1:2,372,940	C/T	intron variant	—
rs10910076	1:2,380,279	A/G	intron variant	—
rs10910078	1:2,390,588	T/A	—	—
rs2477686	1:2,392,648	G/C	intron variant	—
rs2522723726	1:2,408,034	G/T	—	uncertain significance
rs946933819	1:2,408,042	G/A	—	uncertain significance
rs370278142	1:2,408,045	C/T	—	benign
rs1570395737	1:2,408,049	C/T	—	uncertain significance
rs199848920	1:2,408,058	C/T	—	uncertain significance
rs777286891	1:2,408,071	C/T	—	uncertain significance
rs770539349	1:2,408,086	C/T	—	uncertain significance
rs79733537	1:2,408,110	G/C	—	benign
rs2522725152	1:2,408,145	C/G	—	uncertain significance
rs372398573	1:2,409,965	C/T	—	uncertain significance
rs764443976	1:2,409,966	G/A	—	uncertain significance
rs1338858680	1:2,410,010	C/T	—	uncertain significance
rs1293105276	1:2,411,178	A/G	—	uncertain significance
rs181457696	1:2,411,250	G/A	—	uncertain significance
rs185066621	1:2,411,279	C/T	—	benign
rs376411358	1:2,411,294	G/T	—	uncertain significance
rs748227977	1:2,411,296	C/T	—	uncertain significance
rs575702184	1:2,411,352	C/T	—	uncertain significance
rs369208976	1:2,411,353	G/T	—	uncertain significance
rs200040569	1:2,411,376	G/A	—	benign
rs559294543	1:2,411,395	G/A	—	uncertain significance
rs370344110	1:2,411,659	G/A	—	uncertain significance
rs753208118	1:2,411,671	C/A	—	uncertain significance
rs373933358	1:2,411,682	C/T	—	benign
rs2522764207	1:2,411,706	G/C	—	uncertain significance
rs764625474	1:2,411,726	G/A	—	uncertain significance
rs117903287	1:2,411,730	G/C	—	uncertain significance
rs116547422	1:2,415,883	G/C	—	benign
rs368274546	1:2,415,915	C/T	—	uncertain significance
rs757426297	1:2,415,932	T/C	—	uncertain significance
rs567592217	1:2,415,935	T/C	—	uncertain significance
rs140232208	1:2,415,951	T/C	—	uncertain significance
rs201068379	1:2,415,977	C/G	—	uncertain significance
rs1250278706	1:2,418,347	T/C	—	uncertain significance
rs376865106	1:2,418,363	C/T	—	likely benign
rs781778900	1:2,418,364	G/A	—	uncertain significance
rs1278420433	1:2,418,421	G/A	—	uncertain significance
rs761655371	1:2,418,422	G/A	—	uncertain significance
rs116153847	1:2,418,424	C/T	—	likely benign
rs527655128	1:2,418,438	T/G	—	uncertain significance
rs115128681	1:2,418,602	C/T	—	benign
rs200798028	1:2,418,636	C/T	—	uncertain significance
rs370532898	1:2,419,057	G/A	—	uncertain significance
rs745697255	1:2,419,058	A/G	—	uncertain significance
rs182643072	1:2,420,667	C/T	—	likely benign
rs1642434465	1:2,420,687	T/A	—	uncertain significance
rs770047465	1:2,420,713	C/G	—	uncertain significance
rs765158941	1:2,420,790	G/T	—	uncertain significance
rs114931988	1:2,421,279	C/T	—	benign
rs753992333	1:2,421,280	G/A	—	uncertain significance
rs2477699	1:2,422,614	G/A	—	benign
rs540789507	1:2,422,632	C/T	—	uncertain significance
rs532800575	1:2,422,650	G/A	—	likely benign
rs762250204	1:2,422,690	C/G	—	uncertain significance
rs755572589	1:2,422,698	C/T	—	uncertain significance
rs368445617	1:2,422,748	T/A	—	uncertain significance
rs200470299	1:2,422,754	T/C	—	uncertain significance
rs375459857	1:2,422,769	C/T	—	uncertain significance
rs754490512	1:2,422,770	G/A	—	likely benign
rs1259126195	1:2,426,288	G/A	—	likely benign
rs1239460282	1:2,426,322	G/A	—	uncertain significance
rs751286937	1:2,426,334	G/A	—	uncertain significance
rs775862960	1:2,426,383	G/A	—	uncertain significance
rs976127018	1:2,426,972	G/A	—	uncertain significance
rs2522900352	1:2,426,988	C/G	—	uncertain significance
rs751576339	1:2,426,991	C/T	—	uncertain significance
rs376591308	1:2,428,039	G/A	—	likely benign
rs369485909	1:2,428,048	C/T	—	uncertain significance
rs770436008	1:2,428,080	C/T	—	uncertain significance
rs369741433	1:2,428,137	A/C	—	uncertain significance
rs749879031	1:2,428,270	C/T	—	likely benign
rs375510403	1:2,428,288	C/T	—	uncertain significance
rs372570010	1:2,428,333	C/T	—	uncertain significance
rs774766432	1:2,428,336	C/T	—	uncertain significance
rs367683060	1:2,428,347	C/T	—	uncertain significance
rs375081434	1:2,428,457	C/T	—	likely benign
rs750351338	1:2,428,968	G/A	—	uncertain significance
rs529532890	1:2,429,005	C/T	—	likely benign
rs2522920181	1:2,429,022	T/G	—	uncertain significance
rs377674325	1:2,429,997	G/A	—	uncertain significance
rs370734477	1:2,430,056	G/A	—	likely benign
rs1428468691	1:2,430,219	C/T	—	uncertain significance
rs756848274	1:2,430,250	G/A	—	uncertain significance
rs370579115	1:2,430,251	C/T	—	benign
rs754749267	1:2,430,571	C/T	—	uncertain significance
rs376684941	1:2,430,572	G/A	—	likely benign
rs752593286	1:2,430,638	G/C	—	uncertain significance
rs373170802	1:2,430,678	G/A	—	likely benign
rs145549953	1:2,431,099	A/G	—	benign
rs138167803	1:2,431,102	A/G	—	benign
rs1227835470	1:2,433,570	T/C	—	uncertain significance
rs371705592	1:2,433,641	C/T	—	uncertain significance
rs896678802	1:2,433,660	G/A	—	uncertain significance
rs940162784	1:2,433,668	C/T	—	uncertain significance

Showing 100 of 172 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.