PINK1

PTEN induced kinase 1

Summary

This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form of autosomal recessive early-onset Parkinson disease. [provided by RefSeq, Jul 2008]

Known Variants331 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs12037379	1:20,959,746	T/C	—	benign
rs1005937012	1:20,960,054	C/T	—	pathogenic
rs2545244690	1:20,960,065	C/T	—	likely benign
rs2154533488	1:20,960,066	C/G	—	uncertain significance
rs886044686	1:20,960,072	C/A	—	uncertain significance
rs897203855	1:20,960,088	C/T	—	conflicting classifications of pathogenicity
rs2053014865	1:20,960,104	C/T	—	likely benign
rs2545244807	1:20,960,106	C/T	—	uncertain significance
rs551542832	1:20,960,108	G/A	—	conflicting classifications of pathogenicity
rs1364669661	1:20,960,110	C/G	—	likely benign
rs2053015141	1:20,960,117	G/C	—	uncertain significance
rs2545244881	1:20,960,126	T/G	—	uncertain significance
rs569753606	1:20,960,129	G/C	—	conflicting classifications of pathogenicity
rs2545244892	1:20,960,132	T/G	—	uncertain significance
rs1006830855	1:20,960,142	C/G	—	uncertain significance
rs1355118616	1:20,960,153	G/A	—	uncertain significance
rs1275557772	1:20,960,154	C/T	—	uncertain significance
rs2053015980	1:20,960,157	G/T	—	uncertain significance
rs1255530845	1:20,960,165	C/T	—	uncertain significance
rs1190211789	1:20,960,170	G/A	—	likely benign
rs746940423	1:20,960,180	G/C	—	uncertain significance
rs1167601739	1:20,960,182	C/G	—	likely benign
rs967760539	1:20,960,194	A/G	—	likely benign
rs776293086	1:20,960,196	C/T	—	uncertain significance
rs2545245029	1:20,960,199	G/A	—	uncertain significance
rs867771554	1:20,960,202	C/A	—	uncertain significance
rs537679886	1:20,960,206	G/A	—	conflicting classifications of pathogenicity
rs956491558	1:20,960,214	G/A	—	uncertain significance
rs766471374	1:20,960,218	C/T	—	likely benign
rs759968468	1:20,960,225	G/C	—	uncertain significance
rs45530340	1:20,960,230	C/T	—	benign
rs553247784	1:20,960,237	C/T	—	uncertain significance
rs763142730	1:20,960,240	C/T	—	uncertain significance
rs1390551264	1:20,960,243	C/T	—	uncertain significance
rs202048763	1:20,960,259	C/T	—	uncertain significance
rs1207717010	1:20,960,264	G/T	—	uncertain significance
rs1456150277	1:20,960,282	T/C	—	likely benign
rs2545245366	1:20,960,304	G/T	—	uncertain significance
rs770933972	1:20,960,308	C/T	—	conflicting classifications of pathogenicity
rs1224246757	1:20,960,320	G/C	—	uncertain significance
rs1010013404	1:20,960,326	T/G	—	likely benign
rs2545245426	1:20,960,329	C/G	—	uncertain significance
rs762698585	1:20,960,352	T/G	—	uncertain significance
rs543071128	1:20,960,355	G/T	—	uncertain significance
rs1247730138	1:20,960,356	G/A	—	likely benign
rs2053021240	1:20,960,369	C/A	—	uncertain significance
rs148871409	1:20,960,385	A/T	—	benign
rs749456905	1:20,960,386	G/C	—	uncertain significance
rs1433292317	1:20,960,405	G/C	—	uncertain significance
rs1274588239	1:20,960,412	C/T	—	uncertain significance
rs775809722	1:20,960,418	A/C	—	likely pathogenic
rs761293056	1:20,960,425	C/A	—	likely benign
rs777146957	1:20,960,426	C/T	—	likely pathogenic
rs2053024139	1:20,960,433	G/C	—	uncertain significance
rs117438827	1:20,960,442	G/A	—	likely benign
rs767084470	1:20,960,443	G/A	—	likely benign
rs368222506	1:20,960,448	A/G	—	likely benign
rs3102072	1:20,964,066	G/A	—	benign
rs2298296	1:20,964,242	C/T	—	likely benign
rs2298297	1:20,964,270	C/G	—	benign
rs1271147696	1:20,964,317	A/G	—	likely benign
rs763983499	1:20,964,325	C/G	—	conflicting classifications of pathogenicity
rs2298298	1:20,964,328	A/G	splice region variant	benign
rs377403764	1:20,964,330	C/T	—	likely benign
rs371971165	1:20,964,332	C/T	—	uncertain significance
rs374891130	1:20,964,345	C/T	—	uncertain significance
rs781745700	1:20,964,360	C/G	—	uncertain significance
rs773637957	1:20,964,361	G/A	—	conflicting classifications of pathogenicity
rs749670160	1:20,964,364	G/T	—	conflicting classifications of pathogenicity
rs775160272	1:20,964,372	C/T	—	uncertain significance
rs151146709	1:20,964,373	G/A	—	likely benign
rs554567650	1:20,964,376	G/A	—	likely benign
rs45604240	1:20,964,381	C/T	—	conflicting classifications of pathogenicity
rs370346526	1:20,964,382	G/A	—	likely benign
rs889189102	1:20,964,386	C/T	—	uncertain significance
rs2053073220	1:20,964,395	G/T	—	uncertain significance
rs2053073251	1:20,964,396	G/A	—	uncertain significance
rs45608139	1:20,964,401	C/T	—	uncertain significance
rs753196052	1:20,964,419	A/G	—	uncertain significance
rs1252036117	1:20,964,435	G/A	—	uncertain significance
rs768091663	1:20,964,449	G/C	missense variant	pathogenic
rs1030921349	1:20,964,451	T/C	—	likely benign
rs776134109	1:20,964,459	A/G	—	uncertain significance
rs1263856381	1:20,964,478	A/G	—	likely benign
rs773064713	1:20,964,484	C/T	—	likely benign
rs751763774	1:20,964,493	G/A	—	likely benign
rs371385940	1:20,964,503	A/G	—	conflicting classifications of pathogenicity
rs143204084	1:20,964,505	G/C	—	conflicting classifications of pathogenicity
rs754328101	1:20,964,511	C/T	—	likely benign
rs757581951	1:20,964,512	G/A	—	uncertain significance
rs138302371	1:20,964,534	C/T	—	uncertain significance
rs149822257	1:20,964,546	C/T	—	uncertain significance
rs762803746	1:20,964,553	A/G	—	likely benign
rs770790488	1:20,964,563	G/A	—	uncertain significance
rs756677845	1:20,964,567	—	—	pathogenic
rs759468742	1:20,964,567	G/A	—	conflicting classifications of pathogenicity
rs2154533639	1:20,964,571	T/C	—	likely benign
rs34677717	1:20,964,573	C/T	—	conflicting classifications of pathogenicity
rs775620019	1:20,964,574	G/A	—	likely benign
rs2154533640	1:20,964,577	G/T	—	likely benign

Showing 100 of 331 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.