PLD1

phospholipase D1

Summary

This gene encodes a phosphatidylcholine-specific phospholipase which catalyzes the hydrolysis of phosphatidylcholine in order to yield phosphatidic acid and choline. The enzyme may play a role in signal transduction and subcellular trafficking. Alternative splicing results in multiple transcript variants with both catalytic and regulatory properties. [provided by RefSeq, Sep 2011]

Known Variants253 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs73038024	3:171,320,606	T/C	—	benign
rs6766336	3:171,320,907	C/T	—	benign
rs544189603	3:171,320,952	G/C	—	uncertain significance
rs756297631	3:171,320,968	C/A	—	uncertain significance
rs778886885	3:171,320,971	C/T	—	uncertain significance
rs182960718	3:171,320,998	C/T	—	uncertain significance
rs746291174	3:171,320,999	G/A	—	conflicting classifications of pathogenicity
rs75970900	3:171,321,009	T/C	—	benign
rs2473491172	3:171,321,011	C/T	—	uncertain significance
rs9827333	3:171,321,023	C/T	—	benign
rs140678011	3:171,321,041	C/T	—	uncertain significance
rs2473491503	3:171,321,057	A/G	—	likely benign
rs374352618	3:171,321,084	C/T	—	likely benign
rs779851911	3:171,321,085	C/T	—	uncertain significance
rs6781853	3:171,321,314	T/C	—	benign
rs2287577	3:171,322,874	T/C	—	benign
rs2473500615	3:171,323,087	A/T	—	uncertain significance
rs2473500774	3:171,323,105	G/A	—	uncertain significance
rs777294540	3:171,323,111	C/T	—	uncertain significance
rs557980910	3:171,323,199	G/A	—	uncertain significance
rs2287578	3:171,323,305	T/C	—	benign
rs9838510	3:171,323,393	C/T	—	benign
rs57922951	3:171,329,976	T/C	—	benign
rs77851303	3:171,329,981	T/C	—	benign
rs1085307450	3:171,330,067	A/G	—	pathogenic
rs780686076	3:171,330,078	T/C	—	uncertain significance
rs184113386	3:171,330,084	C/T	—	uncertain significance
rs376692638	3:171,330,087	A/G	—	uncertain significance
rs536513156	3:171,330,099	A/T	—	conflicting classifications of pathogenicity
rs372434028	3:171,330,102	C/T	—	uncertain significance
rs373695779	3:171,330,103	G/A	—	uncertain significance
rs2473529647	3:171,330,117	T/C	—	uncertain significance
rs2473529654	3:171,330,119	T/C	—	likely benign
rs567323716	3:171,330,183	C/T	—	conflicting classifications of pathogenicity
rs375638170	3:171,330,201	C/T	—	uncertain significance
rs760481255	3:171,330,203	G/T	—	uncertain significance
rs181714663	3:171,330,236	C/G	—	benign
rs148461296	3:171,333,013	C/G	intron variant	—
rs773158293	3:171,338,177	A/C	—	uncertain significance
rs762649710	3:171,338,189	G/C	—	uncertain significance
rs191205035	3:171,338,223	T/G	—	likely pathogenic
rs1468050892	3:171,338,224	A/G	—	uncertain significance
rs9881788	3:171,338,237	T/G	—	benign
rs375020903	3:171,338,284	A/C	—	uncertain significance
rs1487673182	3:171,338,302	G/A	—	likely pathogenic
rs200139052	3:171,338,324	A/C	—	likely benign
rs360408	3:171,338,569	T/A	intron variant	—
rs12635653	3:171,343,986	A/G	intron variant	—
rs367799271	3:171,360,629	C/T	—	conflicting classifications of pathogenicity
rs186118100	3:171,360,647	C/T	—	likely benign
rs143219477	3:171,360,654	T/C	—	conflicting classifications of pathogenicity
rs762230796	3:171,360,676	G/A	—	likely benign
rs2473675986	3:171,360,687	T/C	—	likely benign
rs9290422	3:171,360,932	G/T	—	benign
rs745616667	3:171,362,684	T/C	—	likely benign
rs779667018	3:171,362,699	C/A	—	conflicting classifications of pathogenicity
rs144713245	3:171,362,703	T/C	—	uncertain significance
rs556433569	3:171,362,712	T/C	missense variant	pathogenic
rs142188788	3:171,362,743	C/T	—	uncertain significance
rs779830370	3:171,362,762	G/C	—	uncertain significance
rs2287579	3:171,362,785	C/T	—	benign
rs774873976	3:171,362,791	A/G	—	uncertain significance
rs759790468	3:171,362,792	T/C	—	likely benign
rs1578176996	3:171,362,804	C/T	—	likely benign
rs2473686811	3:171,362,807	G/C	—	uncertain significance
rs760657350	3:171,362,814	C/T	—	pathogenic
rs1296987715	3:171,362,817	C/A	—	uncertain significance
rs114900103	3:171,362,931	G/A	—	benign
rs360399	3:171,362,977	G/A	—	benign
rs777103394	3:171,377,034	C/T	—	uncertain significance
rs540439098	3:171,377,037	C/T	—	uncertain significance
rs140049612	3:171,377,041	T/C	—	uncertain significance
rs143435053	3:171,377,043	T/C	—	likely benign
rs146759449	3:171,377,058	C/G	—	benign
rs1378242	3:171,377,241	A/T	—	benign
rs75563749	3:171,379,537	G/A	—	benign
rs1262145285	3:171,379,836	T/C	—	likely benign
rs759347279	3:171,379,868	C/G	—	uncertain significance
rs373202033	3:171,379,874	G/A	—	likely benign
rs757887725	3:171,379,897	C/T	—	uncertain significance
rs145015377	3:171,379,898	G/A	—	likely benign
rs987473173	3:171,379,900	C/T	—	likely benign
rs9821754	3:171,379,901	G/A	—	benign
rs781545382	3:171,379,906	T/C	—	uncertain significance
rs2108438562	3:171,379,942	C/T	—	uncertain significance
rs768512768	3:171,379,953	C/T	—	uncertain significance
rs745485055	3:171,379,954	G/A	—	uncertain significance
rs3774039	3:171,380,174	G/A	—	benign
rs9290424	3:171,389,389	A/C	—	—
rs9842562	3:171,389,685	C/A	intron variant	—
rs7626797	3:171,391,366	T/A	intron variant	—
rs1465130781	3:171,392,294	A/C	—	uncertain significance
rs1345364230	3:171,392,369	G/A	—	uncertain significance
rs764435107	3:171,392,373	A/G	—	uncertain significance
rs779019688	3:171,392,384	C/T	—	uncertain significance
rs750491194	3:171,392,385	G/A	—	uncertain significance
rs2473836622	3:171,394,492	A/G	—	likely benign
rs1713396116	3:171,394,514	G/T	—	uncertain significance
rs201247680	3:171,394,522	G/A	—	uncertain significance
rs777216916	3:171,394,536	C/T	—	uncertain significance

Showing 100 of 253 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.