PPT1

palmitoyl-protein thioesterase 1

Summary

The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2008]

Known Variants521 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs180769534	1:40,538,438	C/G	—	uncertain significance
rs12061777	1:40,538,458	C/T	—	benign
rs562172868	1:40,538,579	A/G	—	likely benign
rs1057515481	1:40,538,645	C/T	—	uncertain significance
rs564499024	1:40,538,671	C/T	—	uncertain significance
rs140459014	1:40,538,672	G/A	—	likely benign
rs1057515445	1:40,538,714	G/A	—	uncertain significance
rs909689539	1:40,538,735	C/G	—	uncertain significance
rs149722250	1:40,538,742	A/G	—	uncertain significance
rs376286074	1:40,538,764	T/C	—	uncertain significance
rs1005345754	1:40,538,819	T/C	—	uncertain significance
rs1057515446	1:40,538,823	G/A	—	uncertain significance
rs146411558	1:40,538,832	G/A	—	likely benign
rs74638149	1:40,538,855	A/G	—	benign
rs761216672	1:40,538,921	G/A	—	uncertain significance
rs544749186	1:40,538,922	T/C	—	uncertain significance
rs983979078	1:40,538,931	G/A	—	uncertain significance
rs1057515517	1:40,538,952	T/A	—	uncertain significance
rs764870558	1:40,539,006	T/G	—	uncertain significance
rs767547423	1:40,539,024	A/G	—	uncertain significance
rs368715899	1:40,539,025	T/G	—	conflicting classifications of pathogenicity
rs997860980	1:40,539,032	C/T	—	uncertain significance
rs560639610	1:40,539,054	G/T	—	uncertain significance
rs1126973	1:40,539,076	C/T	—	benign
rs767942985	1:40,539,150	C/T	—	uncertain significance
rs541526824	1:40,539,165	T/C	—	uncertain significance
rs386833624	1:40,539,204	—	—	pathogenic
rs1126972	1:40,539,228	G/C	—	benign
rs570163737	1:40,539,249	G/A	—	uncertain significance
rs1057515555	1:40,539,259	A/G	—	uncertain significance
rs979602950	1:40,539,263	A/G	—	uncertain significance
rs76250039	1:40,539,277	T/C	—	likely benign
rs56067238	1:40,539,345	C/G	—	uncertain significance
rs1016587844	1:40,539,380	G/A	—	uncertain significance
rs1012813914	1:40,539,393	A/C	—	uncertain significance
rs1126970	1:40,539,448	A/C	—	benign
rs1057515447	1:40,539,481	G/A	—	uncertain significance
rs11552578	1:40,539,572	A/G	—	benign
rs780010424	1:40,539,606	T/A	—	uncertain significance
rs746784832	1:40,539,643	G/C	—	uncertain significance
rs199882794	1:40,539,721	A/G	—	benign
rs113082671	1:40,539,727	C/T	—	conflicting classifications of pathogenicity
rs150454815	1:40,539,730	G/T	—	conflicting classifications of pathogenicity
rs2523620158	1:40,539,734	C/A	—	uncertain significance
rs2523620188	1:40,539,738	C/G	—	uncertain significance
rs386833671	1:40,539,740	A/C	missense variant	uncertain significance
rs1557704819	1:40,539,744	A/G	—	uncertain significance
rs1570448364	1:40,539,745	T/C	—	likely benign
rs1270614783	1:40,539,746	G/A	—	uncertain significance
rs2523620240	1:40,539,748	T/C	—	uncertain significance
rs146902902	1:40,539,750	T/C	—	conflicting classifications of pathogenicity
rs1648432406	1:40,539,752	A/T	—	uncertain significance
rs747432731	1:40,539,754	G/A	—	likely benign
rs2523620278	1:40,539,755	T/G	—	uncertain significance
rs2124465491	1:40,539,757	G/T	—	likely benign
rs768943497	1:40,539,758	G/A	—	uncertain significance
rs781759073	1:40,539,760	A/G	—	conflicting classifications of pathogenicity
rs386833670	1:40,539,766	C/T	stop gained	pathogenic
rs386833669	1:40,539,768	A/G	missense variant	pathogenic
rs2124465517	1:40,539,769	T/C	—	likely benign
rs769994024	1:40,539,775	A/T	—	likely benign
rs374154128	1:40,539,776	G/A	—	uncertain significance
rs1304668396	1:40,539,777	A/G	—	uncertain significance
rs199708990	1:40,539,779	A/G	—	uncertain significance
rs1031494186	1:40,539,781	C/T	—	likely benign
rs386833668	1:40,539,783	G/A	stop gained	pathogenic
rs749414998	1:40,539,792	C/T	—	uncertain significance
rs141405110	1:40,539,798	C/T	—	uncertain significance
rs1648437826	1:40,539,804	C/G	—	uncertain significance
rs2523620622	1:40,539,805	C/T	—	likely benign
rs1337941065	1:40,539,811	C/T	—	likely benign
rs769125787	1:40,539,814	T/C	—	likely benign
rs188477623	1:40,539,816	G/A	—	likely benign
rs72937434	1:40,539,817	C/G	—	benign
rs1553166135	1:40,539,819	G/A	—	likely pathogenic
rs1243793048	1:40,539,822	C/T	—	uncertain significance
rs1447656117	1:40,539,824	G/A	—	uncertain significance
rs1648440502	1:40,539,826	A/G	—	likely benign
rs775402028	1:40,539,830	T/A	—	uncertain significance
rs1648441107	1:40,539,832	C/T	—	uncertain significance
rs2124465651	1:40,539,835	T/C	—	likely benign
rs1193191643	1:40,539,837	C/T	—	uncertain significance
rs2124465658	1:40,539,841	T/C	—	likely benign
rs371213189	1:40,539,844	C/G	—	conflicting classifications of pathogenicity
rs763536047	1:40,539,851	C/T	—	uncertain significance
rs200813294	1:40,539,852	G/A	—	uncertain significance
rs1553166147	1:40,539,857	T/C	—	likely pathogenic
rs756821401	1:40,539,859	C/T	—	likely benign
rs2523621009	1:40,539,861	G/C	—	likely benign
rs964708746	1:40,539,862	A/G	—	likely benign
rs2523621031	1:40,539,863	A/G	—	likely benign
rs1337942571	1:40,539,864	G/T	—	likely benign
rs1382850137	1:40,539,866	A/C	—	likely benign
rs1648446800	1:40,539,867	A/G	—	likely benign
rs1294889179	1:40,539,871	C/G	—	likely benign
rs1468385779	1:40,539,873	A/G	—	likely benign
rs367820578	1:40,539,874	T/G	—	likely benign
rs3131663	1:40,540,102	G/C	—	benign
rs6698184	1:40,540,185	G/T	—	benign
rs370347634	1:40,542,290	T/C	—	likely benign

Showing 100 of 521 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.