PLD3

phospholipase D family member 3

Summary

This gene encodes a member of the phospholipase D (PLD) family of enzymes that catalyze the hydrolysis of membrane phospholipids. The encoded protein is a single-pass type II membrane protein and contains two PLD phosphodiesterase domains. This protein influences processing of amyloid-beta precursor protein. Mutations in this gene are associated with Alzheimer disease risk. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2014]

Known Variants133 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs11667768	19:40,854,432	C/A	—	—
rs11666860	19:40,861,863	T/C	regulatory region variant	—
rs762406245	19:40,872,407	T/G	—	uncertain significance
rs1160891929	19:40,872,420	A/G	—	uncertain significance
rs767369618	19:40,872,432	G/T	—	likely benign
rs2078928651	19:40,872,517	C/G	—	uncertain significance
rs760407817	19:40,872,534	G/A	—	likely benign
rs1434441999	19:40,872,539	C/T	—	uncertain significance
rs200094590	19:40,872,540	C/T	—	benign
rs757404195	19:40,872,541	G/A	—	uncertain significance
rs758630487	19:40,872,566	T/C	—	uncertain significance
rs2514746569	19:40,872,568	G/A	—	uncertain significance
rs780172579	19:40,872,572	C/T	—	uncertain significance
rs1420596427	19:40,872,591	G/A	—	uncertain significance
rs201086671	19:40,872,602	T/G	—	likely benign
rs368480309	19:40,872,669	C/T	—	likely benign
rs2078934887	19:40,872,692	G/A	—	uncertain significance
rs2514747070	19:40,872,695	C/T	—	likely benign
rs371085398	19:40,872,706	C/T	—	likely benign
rs765220946	19:40,872,727	C/T	—	likely benign
rs977484313	19:40,872,741	C/T	—	uncertain significance
rs1469675827	19:40,872,742	T/C	—	likely benign
rs535493639	19:40,872,763	C/T	—	likely benign
rs142070038	19:40,872,764	G/A	—	likely benign
rs375652785	19:40,872,766	C/T	—	likely benign
rs778221354	19:40,872,776	C/T	—	uncertain significance
rs11552729	19:40,872,795	G/C	—	uncertain significance
rs145826567	19:40,872,797	C/T	—	uncertain significance
rs138674695	19:40,872,803	C/G	—	likely benign
rs2514747397	19:40,872,809	T/C	—	uncertain significance
rs774230341	19:40,872,829	G/T	—	likely benign
rs201029370	19:40,872,834	G/T	—	likely benign
rs200368701	19:40,873,598	C/G	—	likely benign
rs747119463	19:40,873,599	C/G	—	likely benign
rs376975617	19:40,873,647	A/G	—	uncertain significance
rs192746231	19:40,873,698	C/T	—	uncertain significance
rs534367783	19:40,873,704	C/T	—	uncertain significance
rs1480294108	19:40,873,705	G/A	—	likely benign
rs1463760117	19:40,873,758	C/A	—	uncertain significance
rs367802500	19:40,873,765	G/A	—	likely benign
rs922440021	19:40,873,767	A/G	—	uncertain significance
rs3745198	19:40,875,800	C/G	—	benign
rs3745199	19:40,875,810	C/G	—	benign
rs112274606	19:40,875,811	G/A	—	likely benign
rs1404773005	19:40,875,825	T/C	—	uncertain significance
rs144087366	19:40,875,856	G/A	—	benign
rs374184677	19:40,875,860	G/A	—	uncertain significance
rs752620117	19:40,875,866	G/A	—	uncertain significance
rs200529365	19:40,875,874	C/G	—	likely benign
rs2145692584	19:40,875,891	G/C	—	uncertain significance
rs565771988	19:40,875,916	G/T	—	likely benign
rs2514756387	19:40,875,927	T/G	—	uncertain significance
rs371987481	19:40,875,934	C/T	—	uncertain significance
rs2514756435	19:40,875,938	G/A	—	uncertain significance
rs1478327455	19:40,875,945	G/A	—	likely benign
rs1054134909	19:40,875,951	A/G	—	likely benign
rs181424414	19:40,875,998	C/T	—	benign
rs764154244	19:40,876,004	C/T	—	likely benign
rs745451549	19:40,876,061	G/A	—	uncertain significance
rs1404559954	19:40,876,068	A/T	—	uncertain significance
rs2514756886	19:40,876,072	C/T	—	likely benign
rs2079032507	19:40,876,081	G/A	—	uncertain significance
rs764100883	19:40,876,094	A/G	—	uncertain significance
rs1349657406	19:40,876,117	C/T	—	likely benign
rs2079033716	19:40,876,121	A/G	—	uncertain significance
rs765630414	19:40,876,131	G/A	—	uncertain significance
rs756750029	19:40,876,160	G/A	—	likely benign
rs145999145	19:40,877,595	G/A	missense variant	uncertain significance
rs139897683	19:40,877,597	G/C	—	likely benign
rs375716725	19:40,877,608	A/G	—	uncertain significance
rs749875620	19:40,877,625	C/G	—	uncertain significance
rs757965784	19:40,877,626	G/A	—	uncertain significance
rs2514760749	19:40,877,635	C/A	—	uncertain significance
rs2514760842	19:40,877,666	C/A	—	likely benign
rs773251407	19:40,877,680	C/G	—	uncertain significance
rs146874534	19:40,877,689	C/T	—	uncertain significance
rs144312764	19:40,877,715	C/T	—	uncertain significance
rs200274020	19:40,877,752	A/G	—	conflicting classifications of pathogenicity
rs771064838	19:40,877,778	G/A	—	uncertain significance
rs747934600	19:40,877,780	G/A	—	uncertain significance
rs921197827	19:40,880,375	C/A	—	likely benign
rs372052627	19:40,880,379	C/T	—	likely benign
rs183821939	19:40,880,380	G/A	—	likely benign
rs1278064727	19:40,880,389	G/C	—	uncertain significance
rs146083475	19:40,880,407	G/A	—	likely benign
rs2514767410	19:40,880,420	C/T	—	likely benign
rs537053537	19:40,880,431	T/C	missense variant	uncertain significance
rs2079145889	19:40,880,438	T/C	—	likely benign
rs770404176	19:40,880,444	C/T	—	likely benign
rs368325395	19:40,880,446	A/G	—	uncertain significance
rs750417438	19:40,880,464	G/A	—	uncertain significance
rs750221216	19:40,880,539	T/C	—	likely benign
rs764901428	19:40,882,503	C/T	—	likely benign
rs115847735	19:40,882,534	C/T	—	benign
rs545286354	19:40,882,548	G/A	—	conflicting classifications of pathogenicity
rs139860064	19:40,882,558	C/T	—	likely benign
rs147721393	19:40,882,567	C/T	—	likely benign
rs57187324	19:40,882,588	C/T	—	benign
rs2514774350	19:40,882,600	A/G	—	likely benign
rs374934757	19:40,882,605	C/T	—	uncertain significance

Showing 100 of 133 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.