PINK1 (PTEN induced kinase 1) - Rat Genome Database

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Gene: PINK1 (PTEN induced kinase 1) Homo sapiens
Analyze
Symbol: PINK1
Name: PTEN induced kinase 1
RGD ID: 1314001
HGNC Page HGNC:14581
Description: Enables several functions, including enzyme binding activity; ion binding activity; and protein kinase activity. Involved in several processes, including protein localization to mitochondrion; regulation of macroautophagy; and regulation of mitochondrion organization. Acts upstream of or within hemopoiesis. Located in several cellular components, including astrocyte projection; mitochondrial envelope; and perinuclear region of cytoplasm. Part of chromatin. Implicated in Parkinson's disease and Parkinson's disease 6.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BRPK; FLJ27236; PARK6; Parkinson disease (autosomal recessive) 6; protein kinase BRPK; PTEN induced putative kinase 1; PTEN-induced putative kinase protein 1; serine/threonine-protein kinase PINK1, mitochondrial
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38120,633,458 - 20,651,511 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl120,633,458 - 20,651,511 (+)EnsemblGRCh38hg38GRCh38
GRCh37120,959,951 - 20,978,004 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36120,832,535 - 20,850,591 (+)NCBINCBI36Build 36hg18NCBI36
Build 34120,705,253 - 20,723,309NCBI
Celera119,284,119 - 19,302,182 (+)NCBICelera
Cytogenetic Map1p36.12NCBI
HuRef119,206,074 - 19,224,136 (+)NCBIHuRef
CHM1_1121,070,747 - 21,088,823 (+)NCBICHM1_1
T2T-CHM13v2.0120,459,649 - 20,477,706 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(R)-lipoic acid  (ISO)
1,1-dichloroethene  (ISO)
1,3-dichloropropan-2-ol  (ISO)
1,4-benzoquinone  (EXP)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4,5,6,7-TETRABROMOBENZOTRIAZOLE  (EXP)
4-nitrophenol  (ISO)
4-phenylbutyric acid  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acetaldehyde  (EXP)
acetamide  (ISO)
acetylcholine  (ISO)
acrylamide  (ISO)
aflatoxin B1  (ISO)
aldehydo-D-glucose  (EXP,ISO)
aluminium atom  (ISO)
aluminium(0)  (ISO)
amitrole  (ISO)
antimycin A  (EXP)
aristolochic acid A  (EXP)
aristolochic acids  (ISO)
arsenous acid  (EXP,ISO)
atrazine  (ISO)
azoxystrobin  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (ISO)
bupivacaine  (ISO)
buspirone  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
calcitriol  (EXP)
capsaicin  (EXP)
carbon nanotube  (ISO)
carbonyl cyanide p-trifluoromethoxyphenylhydrazone  (ISO)
carnosic acid  (EXP)
CCCP  (EXP,ISO)
chloroquine  (ISO)
chlorpyrifos  (EXP,ISO)
chromium(6+)  (EXP,ISO)
cisplatin  (EXP,ISO)
clofibric acid  (ISO)
clotrimazole  (ISO)
coenzyme Q10  (ISO)
colforsin daropate hydrochloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
coumestrol  (EXP)
curcumin  (ISO)
cyclosporin A  (EXP,ISO)
D-glucose  (EXP,ISO)
decabromodiphenyl ether  (ISO)
deguelin  (EXP)
desferrioxamine B  (EXP)
Di-n-octyl phthalate  (EXP)
diarsenic trioxide  (EXP,ISO)
diazinon  (ISO)
dioxygen  (ISO)
dithionite(2-)  (ISO)
dopamine  (ISO)
dorsomorphin  (ISO)
doxorubicin  (EXP,ISO)
ethanol  (EXP)
fenpyroximate  (EXP)
fenvalerate  (ISO)
fructose  (ISO)
furosemide  (ISO)
Fusaric acid  (EXP)
Genipin  (ISO)
glafenine  (ISO)
glucose  (EXP,ISO)
hexadecanoic acid  (EXP)
Honokiol  (ISO)
hydrogen peroxide  (EXP,ISO)
inositol  (ISO)
iodixanol  (ISO)
lead diacetate  (EXP)
lead(0)  (EXP,ISO)
lipoic acid  (ISO)
manganese(II) chloride  (EXP)
melatonin  (EXP,ISO)
methimazole  (ISO)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-acetylsphingosine  (EXP,ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-4-phenylpyridinium  (EXP,ISO)
nefazodone  (ISO)
nickel atom  (ISO)
nickel dichloride  (ISO)
O-acetyl-L-carnitine  (ISO)
ochratoxin A  (ISO)
oleanolic acid  (EXP)
oleic acid  (EXP)
oligomycin A  (EXP)
Ophiopogonin D  (EXP)
oxidopamine  (EXP)
ozone  (EXP,ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
phlorizin  (ISO)
phytosphingosine  (EXP)
picoxystrobin  (EXP)
pirinixic acid  (ISO)
piroxicam  (EXP)
poly(vinylpyrrolidone)  (ISO)
ponasterone A  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
pyrimidifen  (EXP)
rac-lactic acid  (EXP)
reactive oxygen species  (EXP,ISO)
remifentanil  (ISO)
Repaglinide  (ISO)
resveratrol  (EXP,ISO)
rotenone  (EXP,ISO)
silibinin  (EXP)
silicon dioxide  (EXP,ISO)
silver(1+) nitrate  (ISO)
sirolimus  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
sorafenib  (EXP,ISO)
streptozocin  (ISO)
succimer  (EXP)
sulfadimethoxine  (ISO)
sulforaphane  (EXP)
superoxide  (ISO)
T-2 toxin  (ISO)
tacrolimus hydrate  (EXP)
tamoxifen  (ISO)
taurine  (ISO)
tebufenpyrad  (EXP)
temozolomide  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thifluzamide  (EXP)
thioacetamide  (ISO)
titanium dioxide  (EXP,ISO)
toyocamycin  (ISO)
tricalcium bis(phosphate)  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
trifloxystrobin  (EXP)
trifluoperazine  (EXP)
trovafloxacin  (ISO)
tunicamycin  (EXP,ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vitamin E  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
autophagy  (IEA)
catecholamine secretion  (IEA,ISO)
cellular response to hydrogen sulfide  (IEA,ISO)
cellular response to hypoxia  (IEA,IMP)
cellular response to oxidative stress  (IEA,IMP)
cellular response to toxic substance  (IEA,TAS)
dopamine secretion  (IEA,ISO)
establishment of localization in cell  (IEA,ISO)
establishment of protein localization to mitochondrion  (IMP)
hemopoiesis  (IGI)
intracellular signal transduction  (IDA,IEA)
maintenance of protein location in mitochondrion  (IMP)
mitochondrial fission  (ISO)
mitochondrion organization  (IMP)
mitochondrion to lysosome vesicle-mediated transport  (IMP)
mitophagy  (IGI)
negative regulation of apoptotic process  (IEA,ISO)
negative regulation of autophagosome assembly  (IMP)
negative regulation of cellular process  (ISO)
negative regulation of fatty acid beta-oxidation  (ISO)
negative regulation of gene expression  (IEA,ISS)
negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway  (IDA,IMP)
negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway  (IEA)
negative regulation of intrinsic apoptotic signaling pathway  (IDA)
negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide  (IDA)
negative regulation of JNK cascade  (TAS)
negative regulation of macroautophagy  (IMP)
negative regulation of mitochondrial fission  (IMP)
negative regulation of mitophagy  (IMP)
negative regulation of neuron apoptotic process  (IEA,IMP)
negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway  (IDA)
negative regulation of reactive oxygen species metabolic process  (IMP)
positive regulation of ATP biosynthetic process  (TAS)
positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization  (IEA,ISO)
positive regulation of canonical NF-kappaB signal transduction  (IDA)
positive regulation of catecholamine secretion  (IEA,ISO)
positive regulation of cristae formation  (IMP)
positive regulation of dopamine secretion  (IEA,ISO)
positive regulation of free ubiquitin chain polymerization  (ISS)
positive regulation of macroautophagy  (IMP)
positive regulation of mitochondrial electron transport, NADH to ubiquinone  (IEA,ISO,TAS)
positive regulation of mitochondrial fission  (IBA,IEA,ISO)
positive regulation of mitophagy in response to mitochondrial depolarization  (IMP)
positive regulation of NMDA glutamate receptor activity  (ISO)
positive regulation of peptidyl-serine phosphorylation  (IDA,IMP,TAS)
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IC)
positive regulation of protein dephosphorylation  (IEA)
positive regulation of protein phosphorylation  (IEA,ISO)
positive regulation of protein targeting to mitochondrion  (HMP)
positive regulation of protein ubiquitination  (ISS)
positive regulation of release of cytochrome c from mitochondria  (IMP)
positive regulation of synaptic transmission, dopaminergic  (IEA,ISO)
positive regulation of translation  (IEA)
protein stabilization  (IEA,IMP)
protein ubiquitination  (IMP)
regulation of apoptotic process  (IBA,IEA)
regulation of autophagy of mitochondrion  (TAS)
regulation of cellular response to oxidative stress  (IMP)
regulation of hydrogen peroxide metabolic process  (IEA)
regulation of macromolecule metabolic process  (IEA)
regulation of mitochondrial membrane potential  (IGI,IMP)
regulation of mitochondrion organization  (IMP)
regulation of neuron apoptotic process  (IEA)
regulation of nitrogen compound metabolic process  (IEA)
regulation of oxidative phosphorylation  (IDA)
regulation of primary metabolic process  (IEA)
regulation of proteasomal protein catabolic process  (NAS)
regulation of protein targeting to mitochondrion  (IGI,IMP)
regulation of protein ubiquitination  (IDA,IMP)
regulation of protein-containing complex assembly  (IDA)
regulation of reactive oxygen species metabolic process  (IGI,IMP)
regulation of synaptic vesicle transport  (TAS)
respiratory electron transport chain  (IEA)
response to ischemia  (IEA,ISO)
response to oxidative stress  (IGI)
response to stress  (IEA)
TORC2 signaling  (IC)
ubiquitin-dependent protein catabolic process  (TAS)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Genes associated with Parkinson's disease: regulation of autophagy and beyond. Beilina A and Cookson MR, J Neurochem. 2015 Jul 30. doi: 10.1111/jnc.13266.
2. Phenotypic characterization of recessive gene knockout rat models of Parkinson's disease. Dave KD, etal., Neurobiol Dis. 2014 Oct;70:190-203. doi: 10.1016/j.nbd.2014.06.009. Epub 2014 Jun 24.
3. The three 'P's of mitophagy: PARKIN, PINK1, and post-translational modifications. Durcan TM and Fon EA, Genes Dev. 2015 May 15;29(10):989-99. doi: 10.1101/gad.262758.115.
4. PINK1 protein in normal human brain and Parkinson's disease. Gandhi S, etal., Brain. 2006 Jul;129(Pt 7):1720-31. Epub 2006 May 15.
5. Impaired intracellular trafficking defines early Parkinson's disease. Hunn BH, etal., Trends Neurosci. 2015 Mar;38(3):178-88. doi: 10.1016/j.tins.2014.12.009. Epub 2015 Jan 29.
6. Mitochondria and mitophagy: the yin and yang of cell death control. Kubli DA and Gustafsson AB, Circ Res. 2012 Oct 12;111(9):1208-21. doi: 10.1161/CIRCRESAHA.112.265819.
7. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
8. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
9. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
12. Parkin and PINK1: much more than mitophagy. Scarffe LA, etal., Trends Neurosci. 2014 Jun;37(6):315-24. doi: 10.1016/j.tins.2014.03.004. Epub 2014 Apr 13.
13. Regulation of dopamine presynaptic markers and receptors in the striatum of DJ-1 and Pink1 knockout rats. Sun J, etal., Neurosci Lett. 2013 Dec 17;557 Pt B:123-8. doi: 10.1016/j.neulet.2013.10.034. Epub 2013 Oct 22.
14. Early Expression of Parkinson's Disease-Related Mitochondrial Abnormalities in PINK1 Knockout Rats. Villeneuve LM, etal., Mol Neurobiol. 2016 Jan;53(1):171-86. doi: 10.1007/s12035-014-8927-y. Epub 2014 Nov 25.
15. Selective removal of mitochondria via mitophagy: distinct pathways for different mitochondrial stresses. Wei H, etal., Biochim Biophys Acta. 2015 Oct;1853(10 Pt B):2784-90. doi: 10.1016/j.bbamcr.2015.03.013. Epub 2015 Apr 1.
Additional References at PubMed
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PMID:16009891   PMID:16046032   PMID:16079129   PMID:16157901   PMID:16207731   PMID:16226715   PMID:16257123   PMID:16354302   PMID:16482571   PMID:16547921   PMID:16632486   PMID:16672981  
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PMID:33522017   PMID:33574089   PMID:33730565   PMID:33751372   PMID:33805672   PMID:33819447   PMID:33845304   PMID:33852843   PMID:33933661   PMID:33957982   PMID:33961781   PMID:34043195  
PMID:34050133   PMID:34148057   PMID:34198743   PMID:34271102   PMID:34275172   PMID:34328407   PMID:34421896   PMID:34528385   PMID:34617288   PMID:34623384   PMID:34624312   PMID:34686591  
PMID:34706234   PMID:34717133   PMID:34751247   PMID:34798798   PMID:34812108   PMID:34823575   PMID:34875213   PMID:34924126   PMID:35042401   PMID:35042405   PMID:35192838   PMID:35203326  
PMID:35256949   PMID:35473620   PMID:35502680   PMID:35509820   PMID:35534645   PMID:35581181   PMID:35730318   PMID:35760846   PMID:35764723   PMID:35879267   PMID:35914814   PMID:35963163  
PMID:36039535   PMID:36071695   PMID:36201460   PMID:36282767   PMID:36289190   PMID:36305379   PMID:36307912   PMID:36357363   PMID:36361641   PMID:36398858   PMID:36469690   PMID:36623675  
PMID:36627348   PMID:36823640   PMID:36946264   PMID:36964576   PMID:37037306   PMID:37060996   PMID:37150071   PMID:37259617   PMID:37354803   PMID:37449534   PMID:37544165   PMID:37940999  
PMID:38013600   PMID:38050606   PMID:38062972   PMID:38251428  


Genomics

Comparative Map Data
PINK1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38120,633,458 - 20,651,511 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl120,633,458 - 20,651,511 (+)EnsemblGRCh38hg38GRCh38
GRCh37120,959,951 - 20,978,004 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36120,832,535 - 20,850,591 (+)NCBINCBI36Build 36hg18NCBI36
Build 34120,705,253 - 20,723,309NCBI
Celera119,284,119 - 19,302,182 (+)NCBICelera
Cytogenetic Map1p36.12NCBI
HuRef119,206,074 - 19,224,136 (+)NCBIHuRef
CHM1_1121,070,747 - 21,088,823 (+)NCBICHM1_1
T2T-CHM13v2.0120,459,649 - 20,477,706 (+)NCBIT2T-CHM13v2.0
Pink1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394138,040,718 - 138,053,631 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4138,040,720 - 138,053,618 (-)EnsemblGRCm39 Ensembl
GRCm384138,313,409 - 138,326,296 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4138,313,409 - 138,326,307 (-)EnsemblGRCm38mm10GRCm38
MGSCv374137,869,324 - 137,882,211 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364137,585,488 - 137,598,347 (-)NCBIMGSCv36mm8
Celera4140,093,554 - 140,110,379 (-)NCBICelera
Cytogenetic Map4D3NCBI
cM Map470.14NCBI
Pink1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85155,813,838 - 155,825,950 (-)NCBIGRCr8
mRatBN7.25150,530,523 - 150,542,635 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5150,530,523 - 150,542,635 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5153,226,264 - 153,238,265 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05155,000,550 - 155,012,551 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05154,982,571 - 154,994,572 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05156,677,146 - 156,689,258 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5156,677,146 - 156,689,415 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05160,425,715 - 160,437,827 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45157,091,181 - 157,103,293 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15157,100,712 - 157,113,336 (-)NCBI
Celera5148,924,018 - 148,936,130 (-)NCBICelera
Cytogenetic Map5q36NCBI
Pink1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554521,171,205 - 1,185,125 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554521,171,115 - 1,186,338 (+)NCBIChiLan1.0ChiLan1.0
PINK1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21206,472,787 - 206,490,710 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11205,585,116 - 205,603,037 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0119,583,330 - 19,601,248 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1120,627,364 - 20,646,377 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl120,627,693 - 20,645,560 (+)Ensemblpanpan1.1panPan2
PINK1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1278,276,091 - 78,293,761 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl278,277,077 - 78,294,123 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha274,790,397 - 74,808,514 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0278,842,969 - 78,861,096 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl278,842,996 - 78,861,044 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1275,661,680 - 75,679,782 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0276,673,498 - 76,691,638 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0277,677,116 - 77,695,256 (-)NCBIUU_Cfam_GSD_1.0
Pink1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505840,749,706 - 40,764,701 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364746,573,623 - 6,589,478 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364746,574,471 - 6,589,478 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PINK1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl678,863,190 - 78,884,640 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1678,863,195 - 78,884,663 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2673,117,387 - 73,128,340 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PINK1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120111,902,135 - 111,919,082 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl20111,902,765 - 111,919,069 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660334,316,686 - 4,333,643 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pink1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247645,656,229 - 5,671,260 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247645,656,207 - 5,671,260 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PINK1
322 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_032409.3(PINK1):c.935G>A (p.Arg312Gln) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000543639]|not provided [RCV003482283] Chr1:20644648 [GRCh38]
Chr1:20971141 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.952A>T (p.Met318Leu) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000823919]|not provided [RCV000726608]|not specified [RCV000517984] Chr1:20644665 [GRCh38]
Chr1:20971158 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1570_1573dup (p.Asp525fs) duplication Autosomal recessive early-onset Parkinson disease 6 [RCV000002510] Chr1:20650512..20650513 [GRCh38]
Chr1:20977005..20977006 [GRCh37]
Chr1:1p36.12
pathogenic
NM_032409.3(PINK1):c.1597CAA[3] (p.Gln534dup) microsatellite Autosomal recessive early-onset Parkinson disease 6 [RCV000002511] Chr1:20650541..20650542 [GRCh38]
Chr1:20977034..20977035 [GRCh37]
Chr1:1p36.12
pathogenic
NM_005216.4(DDOST):c.*807_*5409del deletion Autosomal recessive early-onset Parkinson disease 6 [RCV000002513] Chr1:20646970..20651572 [GRCh38]
Chr1:20973463..20978065 [GRCh37]
Chr1:1p36.12
pathogenic
NM_032409.3(PINK1):c.960-59_960-56dup duplication not provided [RCV001545161] Chr1:20645487..20645488 [GRCh38]
Chr1:20971980..20971981 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.926G>A (p.Gly309Asp) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000002505] Chr1:20644639 [GRCh38]
Chr1:20971132 [GRCh37]
Chr1:1p36.12
pathogenic
NM_032409.3(PINK1):c.813C>A (p.His271Gln) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000002506] Chr1:20644526 [GRCh38]
Chr1:20971019 [GRCh37]
Chr1:1p36.12
pathogenic
NM_032409.3(PINK1):c.1311G>A (p.Trp437Ter) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000002507] Chr1:20649054 [GRCh38]
Chr1:20975547 [GRCh37]
Chr1:1p36.12
pathogenic
NM_032409.3(PINK1):c.736C>T (p.Arg246Ter) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000002508] Chr1:20639952 [GRCh38]
Chr1:20966445 [GRCh37]
Chr1:1p36.12
pathogenic
NM_032409.3(PINK1):c.1040T>C (p.Leu347Pro) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000002509]|not provided [RCV002223750] Chr1:20645640 [GRCh38]
Chr1:20972133 [GRCh37]
Chr1:1p36.12
pathogenic
NM_032409.3(PINK1):c.836G>A (p.Arg279His) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000002512]|not provided [RCV002292454] Chr1:20644549 [GRCh38]
Chr1:20971042 [GRCh37]
Chr1:1p36.12
pathogenic|uncertain significance
NM_032409.3(PINK1):c.938C>T (p.Thr313Met) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000002514] Chr1:20644651 [GRCh38]
Chr1:20971144 [GRCh37]
Chr1:1p36.12
pathogenic
NM_032409.3(PINK1):c.650C>A (p.Ala217Asp) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000002515] Chr1:20638104 [GRCh38]
Chr1:20964597 [GRCh37]
Chr1:1p36.12
pathogenic
NM_032409.3(PINK1):c.1366C>T (p.Gln456Ter) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000002516]|not provided [RCV000627238] Chr1:20649109 [GRCh38]
Chr1:20975602 [GRCh37]
Chr1:1p36.12
pathogenic
NM_032409.3(PINK1):c.1291T>C (p.Tyr431His) single nucleotide variant Parkinson disease 6 [RCV000002517] Chr1:20649034 [GRCh38]
Chr1:20975527 [GRCh37]
Chr1:1p36.12
risk factor
NM_032409.3(PINK1):c.1196C>T (p.Pro399Leu) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000372794]|Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 [RCV000002518] Chr1:20648577 [GRCh38]
Chr1:20975070 [GRCh37]
Chr1:1p36.12
pathogenic|uncertain significance
GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1 copy number loss See cases [RCV000051146] Chr1:15385267..20980349 [GRCh38]
Chr1:15711763..21306842 [GRCh37]
Chr1:15584350..21179429 [NCBI36]
Chr1:1p36.21-36.12
pathogenic
GRCh38/hg38 1p36.21-36.12(chr1:13110797-20670207)x3 copy number gain See cases [RCV000051797] Chr1:13110797..20670207 [GRCh38]
Chr1:13178269..20996700 [GRCh37]
Chr1:13100856..20869287 [NCBI36]
Chr1:1p36.21-36.12
pathogenic
GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1 copy number loss See cases [RCV000053789] Chr1:18347821..22512894 [GRCh38]
Chr1:18674315..22839387 [GRCh37]
Chr1:18546902..22711974 [NCBI36]
Chr1:1p36.13-36.12
pathogenic
GRCh38/hg38 1p36.22-36.12(chr1:10556797-22557907)x1 copy number loss See cases [RCV000053760] Chr1:10556797..22557907 [GRCh38]
Chr1:10616854..22884400 [GRCh37]
Chr1:10539441..22756987 [NCBI36]
Chr1:1p36.22-36.12
pathogenic
GRCh38/hg38 1p36.12(chr1:20374020-20736151)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053794]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053794]|See cases [RCV000053794] Chr1:20374020..20736151 [GRCh38]
Chr1:20700513..21062644 [GRCh37]
Chr1:20573100..20935231 [NCBI36]
Chr1:1p36.12
pathogenic
GRCh38/hg38 1p36.12(chr1:20482657-21271999)x1 copy number loss See cases [RCV000053796] Chr1:20482657..21271999 [GRCh38]
Chr1:20809150..21598492 [GRCh37]
Chr1:20681737..21471079 [NCBI36]
Chr1:1p36.12
pathogenic
NM_032409.3(PINK1):c.644C>T (p.Pro215Leu) single nucleotide variant Parkinson disease, late-onset [RCV000082875] Chr1:20638098 [GRCh38]
Chr1:20964591 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.923T>A (p.Leu308Gln) single nucleotide variant Parkinson disease, late-onset [RCV000082876] Chr1:20644636 [GRCh38]
Chr1:20971129 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.587C>T (p.Pro196Leu) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000641727]|not provided [RCV000514116] Chr1:20638041 [GRCh38]
Chr1:20964534 [GRCh37]
Chr1:1p36.12
uncertain significance
GRCh38/hg38 1p36.13-36.12(chr1:19548795-20935131)x1 copy number loss See cases [RCV000138079] Chr1:19548795..20935131 [GRCh38]
Chr1:19875289..21261624 [GRCh37]
Chr1:19747876..21134211 [NCBI36]
Chr1:1p36.13-36.12
likely pathogenic|uncertain significance
NM_032409.3(PINK1):c.620del (p.Arg207fs) deletion Autosomal recessive early-onset Parkinson disease 6 [RCV000169671] Chr1:20638074 [GRCh38]
Chr1:20964567 [GRCh37]
Chr1:1p36.12
pathogenic
NM_032409.3(PINK1):c.1719C>G (p.Leu573=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000408162] Chr1:20650664 [GRCh38]
Chr1:20977157 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.*530AAGT[4] microsatellite Parkinson Disease, Recessive [RCV000261692] Chr1:20651217..20651218 [GRCh38]
Chr1:20977710..20977711 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.165G>A (p.Glu55=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000875741] Chr1:20633713 [GRCh38]
Chr1:20960206 [GRCh37]
Chr1:1p36.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032409.3(PINK1):c.799C>T (p.Gln267Ter) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000190317] Chr1:20644512 [GRCh38]
Chr1:20971005 [GRCh37]
Chr1:1p36.12
not provided
NM_032409.3(PINK1):c.858G>A (p.Pro286=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001078680]|not provided [RCV000712568] Chr1:20644571 [GRCh38]
Chr1:20971064 [GRCh37]
Chr1:1p36.12
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032409.3(PINK1):c.1251+5G>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000282458] Chr1:20648637 [GRCh38]
Chr1:20975130 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.826C>T (p.Arg276Trp) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000365674] Chr1:20644539 [GRCh38]
Chr1:20971032 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.88G>C (p.Gly30Arg) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000983814]|not provided [RCV003409446] Chr1:20633636 [GRCh38]
Chr1:20960129 [GRCh37]
Chr1:1p36.12
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032409.3(PINK1):c.344A>T (p.Gln115Leu) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000576611]|not provided [RCV001579479]|not specified [RCV001642905] Chr1:20633892 [GRCh38]
Chr1:20960385 [GRCh37]
Chr1:1p36.12
benign|likely benign
NM_032409.3(PINK1):c.960-11C>T single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000376299]|not provided [RCV001556973] Chr1:20645549 [GRCh38]
Chr1:20972042 [GRCh37]
Chr1:1p36.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
Single allele complex Ductal breast carcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11
uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
chr1:17555508-24706269 complex variant complex Ductal breast carcinoma [RCV000207266] Chr1:17555508..24706269 [GRCh37]
Chr1:1p36.13-36.11
uncertain significance
NM_032409.3(PINK1):c.1018G>A (p.Ala340Thr) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001000246]|not provided [RCV001707623]|not specified [RCV001579890] Chr1:20645618 [GRCh38]
Chr1:20972111 [GRCh37]
Chr1:1p36.12
benign|likely benign
NM_032409.3(PINK1):c.695C>T (p.Ala232Val) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000325036]|Inborn genetic diseases [RCV002519476] Chr1:20639911 [GRCh38]
Chr1:20966404 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1251+10G>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001089095]|not provided [RCV000347514] Chr1:20648642 [GRCh38]
Chr1:20975135 [GRCh37]
Chr1:1p36.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032409.3(PINK1):c.1698G>A (p.Thr566=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000352418]|not provided [RCV000874986] Chr1:20650643 [GRCh38]
Chr1:20977136 [GRCh37]
Chr1:1p36.12
likely benign|uncertain significance
NM_032409.3(PINK1):c.936G>A (p.Arg312=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001087099]|not provided [RCV000712569] Chr1:20644649 [GRCh38]
Chr1:20971142 [GRCh37]
Chr1:1p36.12
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032409.3(PINK1):c.960-5G>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000286413]|not provided [RCV000992541]|not specified [RCV000244222] Chr1:20645555 [GRCh38]
Chr1:20972048 [GRCh37]
Chr1:1p36.12
benign
NM_032409.3(PINK1):c.189C>T (p.Leu63=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000576424]|not provided [RCV001536653]|not specified [RCV000249312] Chr1:20633737 [GRCh38]
Chr1:20960230 [GRCh37]
Chr1:1p36.12
benign|likely benign
NM_032409.3(PINK1):c.388-7A>G single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000270301]|not provided [RCV000992540]|not specified [RCV000254305] Chr1:20637835 [GRCh38]
Chr1:20964328 [GRCh37]
Chr1:1p36.12
benign
NM_032409.3(PINK1):c.*121G>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000403213] Chr1:20650812 [GRCh38]
Chr1:20977305 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.*534A>G single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000385346] Chr1:20651225 [GRCh38]
Chr1:20977718 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.*18G>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000308009] Chr1:20650709 [GRCh38]
Chr1:20977202 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.*349G>C single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000324669]|not provided [RCV002285305] Chr1:20651040 [GRCh38]
Chr1:20977533 [GRCh37]
Chr1:1p36.12
likely benign|uncertain significance
NM_032409.3(PINK1):c.*655T>C single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000347366] Chr1:20651346 [GRCh38]
Chr1:20977839 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.*807T>C single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000392272] Chr1:20651498 [GRCh38]
Chr1:20977991 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.*532G>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001100198]|Parkinson Disease, Recessive [RCV000330748] Chr1:20651223 [GRCh38]
Chr1:20977716 [GRCh37]
Chr1:1p36.12
likely benign|uncertain significance
NM_032409.3(PINK1):c.417G>T (p.Gly139=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002059126]|not provided [RCV000276153] Chr1:20637871 [GRCh38]
Chr1:20964364 [GRCh37]
Chr1:1p36.12
likely benign|uncertain significance
NM_032409.3(PINK1):c.31C>A (p.Leu11Met) single nucleotide variant not provided [RCV000389665] Chr1:20633579 [GRCh38]
Chr1:20960072 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.434C>T (p.Thr145Met) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001037688]|not provided [RCV000725899]|not specified [RCV000287239] Chr1:20637888 [GRCh38]
Chr1:20964381 [GRCh37]
Chr1:1p36.12
conflicting interpretations of pathogenicity|uncertain significance
NM_032409.3(PINK1):c.1426G>A (p.Glu476Lys) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001089386]|not provided [RCV000712566]|not specified [RCV000403403] Chr1:20649169 [GRCh38]
Chr1:20975662 [GRCh37]
Chr1:1p36.12
benign
NM_032409.3(PINK1):c.448G>T (p.Gly150Cys) single nucleotide variant Inborn genetic diseases [RCV003267313] Chr1:20637902 [GRCh38]
Chr1:20964395 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.67G>A (p.Gly23Ser) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001098230]|not specified [RCV000518777] Chr1:20633615 [GRCh38]
Chr1:20960108 [GRCh37]
Chr1:1p36.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032409.3(PINK1):c.*181C>G single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001096696]|Congenital disorder of glycosylation [RCV000327294]|Parkinson Disease, Recessive [RCV000309593]|not provided [RCV001642906] Chr1:20650872 [GRCh38]
Chr1:20977365 [GRCh37]
Chr1:1p36.12
benign
NM_005216.5(DDOST):c.831C>T (p.Ala277=) single nucleotide variant Congenital disorder of glycosylation [RCV000380267]|Congenital disorder of glycosylation type Ir [RCV001511868]|Parkinson Disease, Recessive [RCV000310528]|not specified [RCV000424368] Chr1:20653738 [GRCh38]
Chr1:20980231 [GRCh37]
Chr1:1p36.12
benign|likely benign
NM_032409.3(PINK1):c.*490A>C single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001100196]|Congenital disorder of glycosylation [RCV000388055]|Parkinson Disease, Recessive [RCV000316648]|not provided [RCV001683179] Chr1:20651181 [GRCh38]
Chr1:20977674 [GRCh37]
Chr1:1p36.12
benign|likely benign
NM_032409.3(PINK1):c.1578G>C (p.Lys526Asn) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000292882] Chr1:20650523 [GRCh38]
Chr1:20977016 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.*573_*576dup duplication Congenital disorder of glycosylation [RCV000334597]|Parkinson Disease, Recessive [RCV000382106] Chr1:20651261..20651262 [GRCh38]
Chr1:20977754..20977755 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.*725GA[4] microsatellite Congenital disorder of glycosylation [RCV000338171]|Parkinson Disease, Recessive [RCV000339669] Chr1:20651414..20651415 [GRCh38]
Chr1:20977907..20977908 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.*571del deletion Parkinson Disease, Recessive [RCV000350731] Chr1:20651261 [GRCh38]
Chr1:20977754 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.*196T>C single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001098426]|Congenital disorder of glycosylation [RCV000384143]|Parkinson Disease, Recessive [RCV000359766]|not provided [RCV001536526] Chr1:20650887 [GRCh38]
Chr1:20977380 [GRCh37]
Chr1:1p36.12
benign|likely benign
NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001000242]|Congenital disorder of glycosylation [RCV000362537]|Parkinson Disease, Recessive [RCV000408170]|not provided [RCV001610804]|not specified [RCV000595549] Chr1:20650507 [GRCh38]
Chr1:20977000 [GRCh37]
Chr1:1p36.12
benign|likely benign
NM_032409.3(PINK1):c.675G>A (p.Ser225=) single nucleotide variant not provided [RCV000585016] Chr1:20638129 [GRCh38]
Chr1:20964622 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_005216.5(DDOST):c.315C>T (p.Gly105=) single nucleotide variant Congenital disorder of glycosylation [RCV000372235]|Congenital disorder of glycosylation type Ir [RCV001509758]|Parkinson Disease, Recessive [RCV000367660]|not specified [RCV000427492] Chr1:20656138 [GRCh38]
Chr1:20982631 [GRCh37]
Chr1:1p36.12
benign
NM_032409.3(PINK1):c.*673_*675dup duplication Congenital disorder of glycosylation [RCV000372882]|Parkinson Disease, Recessive [RCV000392261] Chr1:20651361..20651362 [GRCh38]
Chr1:20977854..20977855 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.*415C>G single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001098431]|Congenital disorder of glycosylation [RCV000331316]|Parkinson Disease, Recessive [RCV000261476]|not provided [RCV001683178] Chr1:20651106 [GRCh38]
Chr1:20977599 [GRCh37]
Chr1:1p36.12
benign|likely benign
NM_032409.3(PINK1):c.*265G>T single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001098428]|Congenital disorder of glycosylation [RCV000292658]|Parkinson Disease, Recessive [RCV000265104]|not provided [RCV001651339] Chr1:20650956 [GRCh38]
Chr1:20977449 [GRCh37]
Chr1:1p36.12
benign|likely benign
NM_005216.5(DDOST):c.*375_*376dup duplication Congenital disorder of glycosylation [RCV000392786]|Parkinson Disease, Recessive [RCV000396177] Chr1:20652002..20652003 [GRCh38]
Chr1:20978495..20978496 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.*37A>T single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001096692]|Congenital disorder of glycosylation [RCV000269899]|Parkinson Disease, Recessive [RCV000362726]|not provided [RCV001660567] Chr1:20650728 [GRCh38]
Chr1:20977221 [GRCh37]
Chr1:1p36.12
benign
NM_005216.5(DDOST):c.*40A>G single nucleotide variant Congenital disorder of glycosylation [RCV000329079]|Congenital disorder of glycosylation type Ir [RCV001660568]|Parkinson Disease, Recessive [RCV000271840]|not provided [RCV001668646] Chr1:20652339 [GRCh38]
Chr1:20978832 [GRCh37]
Chr1:1p36.12
benign
NM_032409.3(PINK1):c.*613A>G single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000287685] Chr1:20651304 [GRCh38]
Chr1:20977797 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.*510G>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000375003] Chr1:20651201 [GRCh38]
Chr1:20977694 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.*672T>C single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001102187]|Congenital disorder of glycosylation [RCV000280759]|Parkinson Disease, Recessive [RCV000303492]|not provided [RCV001651340] Chr1:20651363 [GRCh38]
Chr1:20977856 [GRCh37]
Chr1:1p36.12
benign|likely benign
NM_005216.5(DDOST):c.*542TAAA[6] microsatellite Congenital disorder of glycosylation [RCV000289864]|Parkinson Disease, Recessive [RCV000402856] Chr1:20651802..20651813 [GRCh38]
Chr1:20978295..20978306 [GRCh37]
Chr1:1p36.12
benign|likely benign
NM_032409.3(PINK1):c.*564T>G single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001100200]|Congenital disorder of glycosylation [RCV000296156]|Parkinson Disease, Recessive [RCV000295846]|not provided [RCV001683180] Chr1:20651255 [GRCh38]
Chr1:20977748 [GRCh37]
Chr1:1p36.12
benign|likely benign
NM_005216.5(DDOST):c.*457A>C single nucleotide variant Parkinson Disease, Recessive [RCV000341895] Chr1:20651922 [GRCh38]
Chr1:20978415 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.*356_*357del deletion Parkinson Disease, Recessive [RCV000360734] Chr1:20651046..20651047 [GRCh38]
Chr1:20977539..20977540 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_005216.5(DDOST):c.*462A>G single nucleotide variant Parkinson Disease, Recessive [RCV000303398] Chr1:20651917 [GRCh38]
Chr1:20978410 [GRCh37]
Chr1:1p36.12
benign|likely benign
NM_032409.3(PINK1):c.*519G>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001100197] Chr1:20651210 [GRCh38]
Chr1:20977703 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.851C>A (p.Ser284Tyr) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001857917]|not specified [RCV000516895] Chr1:20644564 [GRCh38]
Chr1:20971057 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1173T>C (p.Asp391=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001087360]|not provided [RCV000712564] Chr1:20648554 [GRCh38]
Chr1:20975047 [GRCh37]
Chr1:1p36.12
benign|likely benign
NM_032409.3(PINK1):c.279G>C (p.Ala93=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001100003] Chr1:20633827 [GRCh38]
Chr1:20960320 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1488G>A (p.Lys496=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000641729] Chr1:20649231 [GRCh38]
Chr1:20975724 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.770C>T (p.Thr257Ile) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001101992]|not provided [RCV000416004] Chr1:20639986 [GRCh38]
Chr1:20966479 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.169C>T (p.Arg57Cys) single nucleotide variant not provided [RCV000416055] Chr1:20633717 [GRCh38]
Chr1:20960210 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.802C>G (p.Leu268Val) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001101993]|not provided [RCV000416244] Chr1:20644515 [GRCh38]
Chr1:20971008 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.865C>A (p.Pro289Thr) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002477740]|not provided [RCV000757618] Chr1:20644578 [GRCh38]
Chr1:20971071 [GRCh37]
Chr1:1p36.12
pathogenic|uncertain significance
NM_032409.3(PINK1):c.804A>G (p.Leu268=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000537959] Chr1:20644517 [GRCh38]
Chr1:20971010 [GRCh37]
Chr1:1p36.12
benign
GRCh37/hg19 1p36.13-36.12(chr1:20067124-22537862)x1 copy number loss See cases [RCV000447314] Chr1:20067124..22537862 [GRCh37]
Chr1:1p36.13-36.12
pathogenic
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1 copy number loss See cases [RCV000446470] Chr1:2749920..22564787 [GRCh37]
Chr1:1p36.32-36.12
pathogenic
NM_032409.3(PINK1):c.1474C>T (p.Arg492Ter) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000814157]|not provided [RCV000497743] Chr1:20649217 [GRCh38]
Chr1:20975710 [GRCh37]
Chr1:1p36.12
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_032409.3(PINK1):c.1010G>A (p.Arg337His) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001857024]|not provided [RCV000498448] Chr1:20645610 [GRCh38]
Chr1:20972103 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.502G>C (p.Ala168Pro) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002527092]|PINK1-Related Parkinsonism [RCV000509548]|not provided [RCV000494163] Chr1:20637956 [GRCh38]
Chr1:20964449 [GRCh37]
Chr1:1p36.12
pathogenic|likely pathogenic|not provided
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_032409.3(PINK1):c.565G>A (p.Gly189Arg) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000765035]|not provided [RCV000585478] Chr1:20638019 [GRCh38]
Chr1:20964512 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1015G>A (p.Ala339Thr) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000641728]|not provided [RCV000594876] Chr1:20645615 [GRCh38]
Chr1:20972108 [GRCh37]
Chr1:1p36.12
conflicting interpretations of pathogenicity|uncertain significance
NM_032409.3(PINK1):c.1153T>C (p.Phe385Leu) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001861701]|not provided [RCV000658504] Chr1:20648534 [GRCh38]
Chr1:20975027 [GRCh37]
Chr1:1p36.12
likely pathogenic|uncertain significance
NM_032409.3(PINK1):c.1362C>T (p.Tyr454=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002532933]|not provided [RCV000712565] Chr1:20649105 [GRCh38]
Chr1:20975598 [GRCh37]
Chr1:1p36.12
benign|likely benign
NM_032409.3(PINK1):c.155C>T (p.Pro52Leu) single nucleotide variant not provided [RCV000712567] Chr1:20633703 [GRCh38]
Chr1:20960196 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.599del (p.Ala200fs) deletion Autosomal recessive early-onset Parkinson disease 6 [RCV000705048] Chr1:20638053 [GRCh38]
Chr1:20964546 [GRCh37]
Chr1:1p36.12
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_032409.3(PINK1):c.675+167A>T single nucleotide variant not provided [RCV001612615] Chr1:20638296 [GRCh38]
Chr1:20964789 [GRCh37]
Chr1:1p36.12
benign
NM_032409.3(PINK1):c.388-65_388-64del deletion not provided [RCV001709213] Chr1:20637777..20637778 [GRCh38]
Chr1:20964270..20964271 [GRCh37]
Chr1:1p36.12
benign
NM_032409.3(PINK1):c.1220G>T (p.Arg407Leu) single nucleotide variant not provided [RCV003312117] Chr1:20648601 [GRCh38]
Chr1:20975094 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1147G>A (p.Ala383Thr) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001100108]|not provided [RCV000756487] Chr1:20648528 [GRCh38]
Chr1:20975021 [GRCh37]
Chr1:1p36.12
likely benign|uncertain significance
NM_032409.3(PINK1):c.1108G>A (p.Val370Met) single nucleotide variant not provided [RCV000992539] Chr1:20645708 [GRCh38]
Chr1:20972201 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.835C>T (p.Arg279Cys) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001096587] Chr1:20644548 [GRCh38]
Chr1:20971041 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.537C>T (p.Pro179=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000892728] Chr1:20637991 [GRCh38]
Chr1:20964484 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.1549C>T (p.Leu517=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001407761] Chr1:20650494 [GRCh38]
Chr1:20976987 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.776+10C>T single nucleotide variant not provided [RCV000926251] Chr1:20640002 [GRCh38]
Chr1:20966495 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.1605G>A (p.Ser535=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002068706] Chr1:20650550 [GRCh38]
Chr1:20977043 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.1231G>A (p.Gly411Ser) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000873018]|not provided [RCV001093405] Chr1:20648612 [GRCh38]
Chr1:20975105 [GRCh37]
Chr1:1p36.12
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032409.3(PINK1):c.153A>G (p.Gly51=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002501324] Chr1:20633701 [GRCh38]
Chr1:20960194 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.1481C>T (p.Ala494Val) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001100110]|not provided [RCV003456451] Chr1:20649224 [GRCh38]
Chr1:20975717 [GRCh37]
Chr1:1p36.12
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032409.3(PINK1):c.267C>T (p.Ala89=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001100002] Chr1:20633815 [GRCh38]
Chr1:20960308 [GRCh37]
Chr1:1p36.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032409.3(PINK1):c.564C>T (p.Thr188=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001402357] Chr1:20638018 [GRCh38]
Chr1:20964511 [GRCh37]
Chr1:1p36.12
likely benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
NM_032409.3(PINK1):c.665G>A (p.Trp222Ter) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000778216] Chr1:20638119 [GRCh38]
Chr1:20964612 [GRCh37]
Chr1:1p36.12
conflicting interpretations of pathogenicity|uncertain significance
NM_032409.3(PINK1):c.322del (p.Leu108fs) deletion Autosomal recessive early-onset Parkinson disease 6 [RCV000778215] Chr1:20633870 [GRCh38]
Chr1:20960363 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.774C>A (p.Tyr258Ter) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000778217] Chr1:20639990 [GRCh38]
Chr1:20966483 [GRCh37]
Chr1:1p36.12
pathogenic
NM_032409.3(PINK1):c.1212C>G (p.Tyr404Ter) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000778218] Chr1:20648593 [GRCh38]
Chr1:20975086 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1077G>A (p.Ala359=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000875233] Chr1:20645677 [GRCh38]
Chr1:20972170 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.852C>T (p.Ser284=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000884090] Chr1:20644565 [GRCh38]
Chr1:20971058 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.939G>A (p.Thr313=) single nucleotide variant not provided [RCV000899197] Chr1:20644652 [GRCh38]
Chr1:20971145 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.273del (p.Cys92fs) deletion Autosomal recessive early-onset Parkinson disease 6 [RCV000822134] Chr1:20633821 [GRCh38]
Chr1:20960314 [GRCh37]
Chr1:1p36.12
pathogenic
NM_032409.3(PINK1):c.1096G>A (p.Asp366Asn) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000820662]|not provided [RCV003480870] Chr1:20645696 [GRCh38]
Chr1:20972189 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.13C>T (p.Gln5Ter) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000818442] Chr1:20633561 [GRCh38]
Chr1:20960054 [GRCh37]
Chr1:1p36.12
pathogenic
NM_032409.3(PINK1):c.962A>G (p.Tyr321Cys) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000808530] Chr1:20645562 [GRCh38]
Chr1:20972055 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.*263C>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001098427] Chr1:20650954 [GRCh38]
Chr1:20977447 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.960-11C>G single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001096589] Chr1:20645549 [GRCh38]
Chr1:20972042 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.*40G>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001096693]|not provided [RCV001707862] Chr1:20650731 [GRCh38]
Chr1:20977224 [GRCh37]
Chr1:1p36.12
benign|likely benign
NM_032409.3(PINK1):c.745T>G (p.Leu249Val) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001057867]|not provided [RCV000993933] Chr1:20639961 [GRCh38]
Chr1:20966454 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.*340C>T single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001098429] Chr1:20651031 [GRCh38]
Chr1:20977524 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.626C>T (p.Pro209Leu) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000802378] Chr1:20638080 [GRCh38]
Chr1:20964573 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.387+14G>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001100004]|not provided [RCV002462329] Chr1:20633949 [GRCh38]
Chr1:20960442 [GRCh37]
Chr1:1p36.12
benign|likely benign
NM_032409.3(PINK1):c.887C>T (p.Pro296Leu) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001096588] Chr1:20644600 [GRCh38]
Chr1:20971093 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1065A>G (p.Gln355=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001065233]|not provided [RCV002275205] Chr1:20645665 [GRCh38]
Chr1:20972158 [GRCh37]
Chr1:1p36.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032409.3(PINK1):c.1488+1G>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001235370] Chr1:20649232 [GRCh38]
Chr1:20975725 [GRCh37]
Chr1:1p36.12
pathogenic
NM_032409.3(PINK1):c.1220G>A (p.Arg407Gln) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001242824] Chr1:20648601 [GRCh38]
Chr1:20975094 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1252-1G>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001202589] Chr1:20648994 [GRCh38]
Chr1:20975487 [GRCh37]
Chr1:1p36.12
pathogenic|likely pathogenic
NM_032409.3(PINK1):c.*64G>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001096694] Chr1:20650755 [GRCh38]
Chr1:20977248 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.*113G>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001096695] Chr1:20650804 [GRCh38]
Chr1:20977297 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.*586T>C single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001102186] Chr1:20651277 [GRCh38]
Chr1:20977770 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.*817C>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001102189] Chr1:20651508 [GRCh38]
Chr1:20978001 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1003A>G (p.Ser335Gly) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001098319] Chr1:20645603 [GRCh38]
Chr1:20972096 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.675+9C>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV003104861] Chr1:20638138 [GRCh38]
Chr1:20964631 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.675+50T>C single nucleotide variant not provided [RCV001571866] Chr1:20638179 [GRCh38]
Chr1:20964672 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.776+38_776+40del deletion not provided [RCV001663666] Chr1:20640030..20640032 [GRCh38]
Chr1:20966523..20966525 [GRCh37]
Chr1:1p36.12
uncertain significance
NC_000001.10:g.(?_19199339)_(22987879_?)dup duplication Autosomal recessive early-onset Parkinson disease 6 [RCV003113320]|Congenital disorder of glycosylation type Ir [RCV003113321]|Hyperprolinemia type 2 [RCV003107740] Chr1:19199339..22987879 [GRCh37]
Chr1:1p36.13-36.12
uncertain significance
NM_032409.3(PINK1):c.112G>A (p.Ala38Thr) single nucleotide variant not provided [RCV003318294] Chr1:20633660 [GRCh38]
Chr1:20960153 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1488+296G>A single nucleotide variant not provided [RCV001645097] Chr1:20649527 [GRCh38]
Chr1:20976020 [GRCh37]
Chr1:1p36.12
benign
NM_032409.3(PINK1):c.676-77G>A single nucleotide variant not provided [RCV001666316] Chr1:20639815 [GRCh38]
Chr1:20966308 [GRCh37]
Chr1:1p36.12
benign
NM_032409.3(PINK1):c.1251+43C>T single nucleotide variant not provided [RCV001715844] Chr1:20648675 [GRCh38]
Chr1:20975168 [GRCh37]
Chr1:1p36.12
benign
GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1 copy number loss 1p36.1 deletion syndrome [RCV001614471] Chr1:16785250..23491592 [GRCh37]
Chr1:1p36.13-36.12
pathogenic
NM_032409.3(PINK1):c.1123+161del deletion not provided [RCV001693285] Chr1:20645881 [GRCh38]
Chr1:20972374 [GRCh37]
Chr1:1p36.12
benign
NM_032409.3(PINK1):c.960-178G>A single nucleotide variant not provided [RCV001639935] Chr1:20645382 [GRCh38]
Chr1:20971875 [GRCh37]
Chr1:1p36.12
benign
NM_032409.3(PINK1):c.1502G>A (p.Arg501Gln) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000873565]|not provided [RCV001555281] Chr1:20650447 [GRCh38]
Chr1:20976940 [GRCh37]
Chr1:1p36.12
benign|likely benign
NM_032409.3(PINK1):c.948C>T (p.Leu316=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000873607] Chr1:20644661 [GRCh38]
Chr1:20971154 [GRCh37]
Chr1:1p36.12
benign
NM_032409.3(PINK1):c.827G>A (p.Arg276Gln) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV000969584] Chr1:20644540 [GRCh38]
Chr1:20971033 [GRCh37]
Chr1:1p36.12
benign|conflicting interpretations of pathogenicity
NM_032409.3(PINK1):c.454C>T (p.Arg152Trp) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001198772] Chr1:20637908 [GRCh38]
Chr1:20964401 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.124C>T (p.Arg42Cys) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001208666] Chr1:20633672 [GRCh38]
Chr1:20960165 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.960-58_960-56dup duplication not provided [RCV001659661] Chr1:20645487..20645488 [GRCh38]
Chr1:20971980..20971981 [GRCh37]
Chr1:1p36.12
benign
NM_032409.3(PINK1):c.1124-159del deletion not provided [RCV001597379] Chr1:20648344 [GRCh38]
Chr1:20974837 [GRCh37]
Chr1:1p36.12
benign
NM_032409.3(PINK1):c.960-54G>A single nucleotide variant not provided [RCV001660760] Chr1:20645506 [GRCh38]
Chr1:20971999 [GRCh37]
Chr1:1p36.12
benign
NM_032409.3(PINK1):c.388-93C>T single nucleotide variant not provided [RCV001551654] Chr1:20637749 [GRCh38]
Chr1:20964242 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.1124-258A>G single nucleotide variant not provided [RCV001559432] Chr1:20648247 [GRCh38]
Chr1:20974740 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.959+72G>C single nucleotide variant not provided [RCV001575880] Chr1:20644744 [GRCh38]
Chr1:20971237 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.676-299G>A single nucleotide variant not provided [RCV001636382] Chr1:20639593 [GRCh38]
Chr1:20966086 [GRCh37]
Chr1:1p36.12
benign
NM_032409.3(PINK1):c.960-55C>A single nucleotide variant not provided [RCV001677717] Chr1:20645505 [GRCh38]
Chr1:20971998 [GRCh37]
Chr1:1p36.12
benign
NM_032409.3(PINK1):c.1124-196A>G single nucleotide variant not provided [RCV001637745] Chr1:20648309 [GRCh38]
Chr1:20974802 [GRCh37]
Chr1:1p36.12
benign
NM_032409.3(PINK1):c.959+299C>T single nucleotide variant not provided [RCV001599176] Chr1:20644971 [GRCh38]
Chr1:20971464 [GRCh37]
Chr1:1p36.12
benign
NM_032409.3(PINK1):c.*352G>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001098430] Chr1:20651043 [GRCh38]
Chr1:20977536 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.414G>A (p.Pro138=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001100005] Chr1:20637868 [GRCh38]
Chr1:20964361 [GRCh37]
Chr1:1p36.12
conflicting interpretations of pathogenicity|uncertain significance
NM_032409.3(PINK1):c.*542G>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001100199] Chr1:20651233 [GRCh38]
Chr1:20977726 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.620G>A (p.Arg207Gln) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001101991] Chr1:20638074 [GRCh38]
Chr1:20964567 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.813C>T (p.His271=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001101994] Chr1:20644526 [GRCh38]
Chr1:20971019 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1729T>C (p.Trp577Arg) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001102105] Chr1:20650674 [GRCh38]
Chr1:20977167 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.*579C>T single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001102185] Chr1:20651270 [GRCh38]
Chr1:20977763 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.*702G>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001102188] Chr1:20651393 [GRCh38]
Chr1:20977886 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.388-269G>A single nucleotide variant not provided [RCV001648949] Chr1:20637573 [GRCh38]
Chr1:20964066 [GRCh37]
Chr1:1p36.12
benign
NM_032409.3(PINK1):c.449G>A (p.Gly150Asp) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001049353] Chr1:20637903 [GRCh38]
Chr1:20964396 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1123+124G>A single nucleotide variant not provided [RCV001649061] Chr1:20645847 [GRCh38]
Chr1:20972340 [GRCh37]
Chr1:1p36.12
benign
NM_032409.3(PINK1):c.1251+153C>T single nucleotide variant not provided [RCV001587532] Chr1:20648785 [GRCh38]
Chr1:20975278 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.960-56del deletion not provided [RCV001693798] Chr1:20645488 [GRCh38]
Chr1:20971981 [GRCh37]
Chr1:1p36.12
benign
NM_032409.3(PINK1):c.1489-168C>T single nucleotide variant not provided [RCV001690841] Chr1:20650266 [GRCh38]
Chr1:20976759 [GRCh37]
Chr1:1p36.12
benign
NM_032409.3(PINK1):c.1194G>A (p.Leu398=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001100109] Chr1:20648575 [GRCh38]
Chr1:20975068 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.*571C>T single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001100201] Chr1:20651262 [GRCh38]
Chr1:20977755 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1095C>T (p.Ser365=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001098321]|not provided [RCV001312068] Chr1:20645695 [GRCh38]
Chr1:20972188 [GRCh37]
Chr1:1p36.12
likely benign|uncertain significance
NM_032409.3(PINK1):c.1728A>G (p.Ser576=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001102104]|not provided [RCV001531618] Chr1:20650673 [GRCh38]
Chr1:20977166 [GRCh37]
Chr1:1p36.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032409.3(PINK1):c.218C>T (p.Ser73Leu) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001098231] Chr1:20633766 [GRCh38]
Chr1:20960259 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1075G>A (p.Ala359Thr) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001098320] Chr1:20645675 [GRCh38]
Chr1:20972168 [GRCh37]
Chr1:1p36.12
conflicting interpretations of pathogenicity|uncertain significance
NM_032409.3(PINK1):c.161C>A (p.Ala54Glu) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001332675] Chr1:20633709 [GRCh38]
Chr1:20960202 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1162T>C (p.Cys388Arg) single nucleotide variant not provided [RCV001268493] Chr1:20648543 [GRCh38]
Chr1:20975036 [GRCh37]
Chr1:1p36.12
likely pathogenic
GRCh37/hg19 1p36.13-36.12(chr1:17284906-21778495)x1 copy number loss not provided [RCV001259567] Chr1:17284906..21778495 [GRCh37]
Chr1:1p36.13-36.12
pathogenic
GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1 copy number loss not provided [RCV001259568] Chr1:16041431..21295864 [GRCh37]
Chr1:1p36.21-36.12
pathogenic
NM_032409.3(PINK1):c.1382T>G (p.Leu461Arg) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002541784]|not provided [RCV001288267] Chr1:20649125 [GRCh38]
Chr1:20975618 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.838G>A (p.Ala280Thr) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001316973] Chr1:20644551 [GRCh38]
Chr1:20971044 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.559_560del (p.Ser187fs) microsatellite Parkinson disease 6, autosomal recessive early-onset [RCV001336760] Chr1:20638011..20638012 [GRCh38]
Chr1:20964504..20964505 [GRCh37]
Chr1:1p36.12
pathogenic
NM_032409.3(PINK1):c.76G>C (p.Gly26Arg) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001315604] Chr1:20633624 [GRCh38]
Chr1:20960117 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1573G>A (p.Asp525Asn) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001309834] Chr1:20650518 [GRCh38]
Chr1:20977011 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.488G>A (p.Gly163Asp) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001343996] Chr1:20637942 [GRCh38]
Chr1:20964435 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.388-3C>T single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001320820] Chr1:20637839 [GRCh38]
Chr1:20964332 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1580T>C (p.Met527Thr) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001306974] Chr1:20650525 [GRCh38]
Chr1:20977018 [GRCh37]
Chr1:1p36.12
likely benign|uncertain significance
NM_032409.3(PINK1):c.1123+19A>G single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001332674] Chr1:20645742 [GRCh38]
Chr1:20972235 [GRCh37]
Chr1:1p36.12
conflicting interpretations of pathogenicity|uncertain significance
NM_032409.3(PINK1):c.624T>C (p.Ala208=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001496804] Chr1:20638078 [GRCh38]
Chr1:20964571 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.1530C>T (p.Ser510=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001489100] Chr1:20650475 [GRCh38]
Chr1:20976968 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.709A>G (p.Met237Val) single nucleotide variant not provided [RCV001528517] Chr1:20639925 [GRCh38]
Chr1:20966418 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.690C>T (p.Ser230=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001463584] Chr1:20639906 [GRCh38]
Chr1:20966399 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.676-240T>C single nucleotide variant not provided [RCV001541199] Chr1:20639652 [GRCh38]
Chr1:20966145 [GRCh37]
Chr1:1p36.12
benign
NM_032409.3(PINK1):c.426G>A (p.Pro142=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001436294]|not provided [RCV001815550] Chr1:20637880 [GRCh38]
Chr1:20964373 [GRCh37]
Chr1:1p36.12
likely benign
NC_000001.10:g.(?_20972043)_(20972226_?)del deletion Autosomal recessive early-onset Parkinson disease 6 [RCV001387908] Chr1:20972043..20972226 [GRCh37]
Chr1:1p36.12
pathogenic
NM_032409.3(PINK1):c.1252-25T>C single nucleotide variant not provided [RCV001686234] Chr1:20648970 [GRCh38]
Chr1:20975463 [GRCh37]
Chr1:1p36.12
benign
NM_032409.3(PINK1):c.558G>C (p.Lys186Asn) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001520961]|not provided [RCV002264373]|not specified [RCV002246404] Chr1:20638012 [GRCh38]
Chr1:20964505 [GRCh37]
Chr1:1p36.12
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_032409.3(PINK1):c.1123+91_1123+104del deletion not provided [RCV001707444] Chr1:20645812..20645825 [GRCh38]
Chr1:20972305..20972318 [GRCh37]
Chr1:1p36.12
benign
NM_032409.3(PINK1):c.960-57_960-56dup duplication not provided [RCV001653292] Chr1:20645487..20645488 [GRCh38]
Chr1:20971980..20971981 [GRCh37]
Chr1:1p36.12
benign
NM_032409.3(PINK1):c.960-142G>C single nucleotide variant not provided [RCV001652206] Chr1:20645418 [GRCh38]
Chr1:20971911 [GRCh37]
Chr1:1p36.12
benign
NM_032409.3(PINK1):c.960-56dup duplication not provided [RCV001652482] Chr1:20645487..20645488 [GRCh38]
Chr1:20971980..20971981 [GRCh37]
Chr1:1p36.12
benign
NM_032409.3(PINK1):c.388-65C>G single nucleotide variant not provided [RCV001685733] Chr1:20637777 [GRCh38]
Chr1:20964270 [GRCh37]
Chr1:1p36.12
benign
NC_000001.11:g.20633253T>C single nucleotide variant not provided [RCV001649842] Chr1:20633253 [GRCh38]
Chr1:20959746 [GRCh37]
Chr1:1p36.12
benign
NM_032409.3(PINK1):c.942G>A (p.Leu314=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001490942] Chr1:20644655 [GRCh38]
Chr1:20971148 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.1023G>A (p.Met341Ile) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001475962]|not provided [RCV003229057] Chr1:20645623 [GRCh38]
Chr1:20972116 [GRCh37]
Chr1:1p36.12
likely benign|uncertain significance
NM_032409.3(PINK1):c.435G>A (p.Thr145=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001464411] Chr1:20637889 [GRCh38]
Chr1:20964382 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.949G>A (p.Val317Ile) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002503189]|not provided [RCV001756568] Chr1:20644662 [GRCh38]
Chr1:20971155 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.292C>T (p.Arg98Trp) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001782634] Chr1:20633840 [GRCh38]
Chr1:20960333 [GRCh37]
Chr1:1p36.12
likely pathogenic
NM_032409.3(PINK1):c.857C>T (p.Pro286Leu) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001868426]|not provided [RCV001754685] Chr1:20644570 [GRCh38]
Chr1:20971063 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.905G>A (p.Arg302His) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001861116]|See cases [RCV002252699]|not provided [RCV001772645] Chr1:20644618 [GRCh38]
Chr1:20971111 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1024A>C (p.Met342Leu) single nucleotide variant not provided [RCV001767519] Chr1:20645624 [GRCh38]
Chr1:20972117 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.250C>T (p.Gln84Ter) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001784840] Chr1:20633798 [GRCh38]
Chr1:20960291 [GRCh37]
Chr1:1p36.12
pathogenic
NM_032409.3(PINK1):c.915T>A (p.Pro305=) single nucleotide variant not provided [RCV001763779] Chr1:20644628 [GRCh38]
Chr1:20971121 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1264C>T (p.Arg422Cys) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001964041] Chr1:20649007 [GRCh38]
Chr1:20975500 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.968G>A (p.Cys323Tyr) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001908877] Chr1:20645568 [GRCh38]
Chr1:20972061 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.666G>A (p.Trp222Ter) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001915142] Chr1:20638120 [GRCh38]
Chr1:20964613 [GRCh37]
Chr1:1p36.12
pathogenic
NM_032409.3(PINK1):c.1219C>T (p.Arg407Trp) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002002099] Chr1:20648600 [GRCh38]
Chr1:20975093 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.101C>G (p.Pro34Arg) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001893903] Chr1:20633649 [GRCh38]
Chr1:20960142 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.630G>T (p.Gly210=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001984939] Chr1:20638084 [GRCh38]
Chr1:20964577 [GRCh37]
Chr1:1p36.12
likely benign|uncertain significance
NM_032409.3(PINK1):c.648G>T (p.Leu216Phe) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001894391] Chr1:20638102 [GRCh38]
Chr1:20964595 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1123+4G>C single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001890433] Chr1:20645727 [GRCh38]
Chr1:20972220 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1475G>A (p.Arg492Gln) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001941193] Chr1:20649218 [GRCh38]
Chr1:20975711 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1544A>G (p.His515Arg) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002048084] Chr1:20650489 [GRCh38]
Chr1:20976982 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1121C>G (p.Pro374Arg) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001887256] Chr1:20645721 [GRCh38]
Chr1:20972214 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1609G>A (p.Ala537Thr) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002037134] Chr1:20650554 [GRCh38]
Chr1:20977047 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.439C>T (p.Arg147Cys) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002018543] Chr1:20637893 [GRCh38]
Chr1:20964386 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.371C>T (p.Ala124Val) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001979733] Chr1:20633919 [GRCh38]
Chr1:20960412 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.199C>T (p.Leu67Phe) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001933371] Chr1:20633747 [GRCh38]
Chr1:20960240 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.959+4A>T single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001878746] Chr1:20644676 [GRCh38]
Chr1:20971169 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.47C>T (p.Ala16Val) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001883055]|Inborn genetic diseases [RCV003365489] Chr1:20633595 [GRCh38]
Chr1:20960088 [GRCh37]
Chr1:1p36.12
likely benign|uncertain significance
NM_032409.3(PINK1):c.1329del (p.Tyr444fs) deletion Autosomal recessive early-onset Parkinson disease 6 [RCV001917853] Chr1:20649071 [GRCh38]
Chr1:20975564 [GRCh37]
Chr1:1p36.12
pathogenic
NM_032409.3(PINK1):c.634C>T (p.Pro212Ser) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002016848] Chr1:20638088 [GRCh38]
Chr1:20964581 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1009C>T (p.Arg337Cys) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002027098] Chr1:20645609 [GRCh38]
Chr1:20972102 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.388-10C>G single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001975854] Chr1:20637832 [GRCh38]
Chr1:20964325 [GRCh37]
Chr1:1p36.12
conflicting interpretations of pathogenicity|uncertain significance
NM_032409.3(PINK1):c.1391G>A (p.Arg464His) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001916034] Chr1:20649134 [GRCh38]
Chr1:20975627 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.805G>A (p.Ala269Thr) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001973824] Chr1:20644518 [GRCh38]
Chr1:20971011 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1024A>G (p.Met342Val) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001958415] Chr1:20645624 [GRCh38]
Chr1:20972117 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.902C>T (p.Ser301Leu) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001976687] Chr1:20644615 [GRCh38]
Chr1:20971108 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1606G>T (p.Ala536Ser) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001959731] Chr1:20650551 [GRCh38]
Chr1:20977044 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.338_346del (p.Glu113_Gln115del) deletion Autosomal recessive early-onset Parkinson disease 6 [RCV002032064] Chr1:20633883..20633891 [GRCh38]
Chr1:20960376..20960384 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1442A>T (p.Asp481Val) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001930254] Chr1:20649185 [GRCh38]
Chr1:20975678 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1579A>G (p.Met527Val) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002035204] Chr1:20650524 [GRCh38]
Chr1:20977017 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1627A>G (p.Arg543Gly) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001996902] Chr1:20650572 [GRCh38]
Chr1:20977065 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.25C>G (p.Arg9Gly) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001870326] Chr1:20633573 [GRCh38]
Chr1:20960066 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.311T>G (p.Phe104Cys) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001906766] Chr1:20633859 [GRCh38]
Chr1:20960352 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.85_106del (p.Tyr29fs) deletion Autosomal recessive early-onset Parkinson disease 6 [RCV001960635] Chr1:20633623..20633644 [GRCh38]
Chr1:20960116..20960137 [GRCh37]
Chr1:1p36.12
pathogenic
NM_032409.3(PINK1):c.116G>T (p.Gly39Val) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001918474] Chr1:20633664 [GRCh38]
Chr1:20960157 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1167G>A (p.Leu389=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001953103] Chr1:20648548 [GRCh38]
Chr1:20975041 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1252G>A (p.Val418Met) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001918802] Chr1:20648995 [GRCh38]
Chr1:20975488 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.141C>G (p.Gly47=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002011781] Chr1:20633689 [GRCh38]
Chr1:20960182 [GRCh37]
Chr1:1p36.12
likely benign|uncertain significance
NM_032409.3(PINK1):c.644C>G (p.Pro215Arg) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV001932839] Chr1:20638098 [GRCh38]
Chr1:20964591 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.69C>G (p.Gly23=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002146790] Chr1:20633617 [GRCh38]
Chr1:20960110 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.1512A>C (p.Ala504=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002090479] Chr1:20650457 [GRCh38]
Chr1:20976950 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.177C>T (p.Val59=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002146161] Chr1:20633725 [GRCh38]
Chr1:20960218 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.1251+19A>G single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002148294] Chr1:20648651 [GRCh38]
Chr1:20975144 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.675+8C>T single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002126790] Chr1:20638137 [GRCh38]
Chr1:20964630 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.960-18del deletion Autosomal recessive early-onset Parkinson disease 6 [RCV002109009] Chr1:20645540 [GRCh38]
Chr1:20972033 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.1689G>A (p.Glu563=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002107717]|not provided [RCV003456517] Chr1:20650634 [GRCh38]
Chr1:20977127 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.1419A>G (p.Ala473=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002192147] Chr1:20649162 [GRCh38]
Chr1:20975655 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.736C>A (p.Arg246=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002208467] Chr1:20639952 [GRCh38]
Chr1:20966445 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.960-17T>C single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002093624] Chr1:20645543 [GRCh38]
Chr1:20972036 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.504T>C (p.Ala168=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002195103] Chr1:20637958 [GRCh38]
Chr1:20964451 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.1251+9C>T single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002150450] Chr1:20648641 [GRCh38]
Chr1:20975134 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.1488+17C>T single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002152828] Chr1:20649248 [GRCh38]
Chr1:20975741 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.1260G>A (p.Thr420=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002189796] Chr1:20649003 [GRCh38]
Chr1:20975496 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.139G>C (p.Gly47Arg) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002481026]|Inborn genetic diseases [RCV003101225]|See cases [RCV002252773]|not provided [RCV002211079] Chr1:20633687 [GRCh38]
Chr1:20960180 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1488+15G>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002205445] Chr1:20649246 [GRCh38]
Chr1:20975739 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.960-12C>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002159455] Chr1:20645548 [GRCh38]
Chr1:20972041 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.627G>A (p.Pro209=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002216640] Chr1:20638081 [GRCh38]
Chr1:20964574 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.1047C>A (p.Gly349=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002103131] Chr1:20645647 [GRCh38]
Chr1:20972140 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.1011C>T (p.Arg337=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002161335] Chr1:20645611 [GRCh38]
Chr1:20972104 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.546G>A (p.Leu182=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002119350] Chr1:20638000 [GRCh38]
Chr1:20964493 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.315G>A (p.Gly105=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002160167] Chr1:20633863 [GRCh38]
Chr1:20960356 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.960-13C>G single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002143164] Chr1:20645547 [GRCh38]
Chr1:20972040 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.1017C>T (p.Ala339=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002219545] Chr1:20645617 [GRCh38]
Chr1:20972110 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.387+20A>G single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002164307] Chr1:20633955 [GRCh38]
Chr1:20960448 [GRCh37]
Chr1:1p36.12
benign|likely benign
NM_032409.3(PINK1):c.429G>A (p.Leu143=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002202287] Chr1:20637883 [GRCh38]
Chr1:20964376 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.1719C>T (p.Leu573=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002201432] Chr1:20650664 [GRCh38]
Chr1:20977157 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.1125C>T (p.Asp375=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002101948] Chr1:20648506 [GRCh38]
Chr1:20974999 [GRCh37]
Chr1:1p36.12
likely benign
NC_000001.10:g.(?_19199339)_(24690861_?)dup duplication Deficiency of hydroxymethylglutaryl-CoA lyase [RCV003122155] Chr1:19199339..24690861 [GRCh37]
Chr1:1p36.13-36.11
uncertain significance
NC_000001.10:g.(?_20974682)_(20975609_?)del deletion Autosomal recessive early-onset Parkinson disease 6 [RCV003122866] Chr1:20974682..20975609 [GRCh37]
Chr1:1p36.12
likely pathogenic
NC_000001.10:g.(?_20972033)_(20972236_?)del deletion Autosomal recessive early-onset Parkinson disease 6 [RCV003122867] Chr1:20972033..20972236 [GRCh37]
Chr1:1p36.12
pathogenic
NM_032409.3(PINK1):c.898C>T (p.Pro300Ser) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002273040] Chr1:20644611 [GRCh38]
Chr1:20971104 [GRCh37]
Chr1:1p36.12
uncertain significance
NR_046507.1(PINK1-AS):n.629C>T single nucleotide variant Leprosy, susceptibility to, 1 [RCV002291820] Chr1:20651565 [GRCh38]
Chr1:20978058 [GRCh37]
Chr1:1p36.12
uncertain risk allele
NM_032409.3(PINK1):c.1183G>A (p.Gly395Ser) single nucleotide variant not provided [RCV002475083] Chr1:20648564 [GRCh38]
Chr1:20975057 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1499C>G (p.Ala500Gly) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002303841] Chr1:20650444 [GRCh38]
Chr1:20976937 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.158G>A (p.Gly53Asp) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002295373] Chr1:20633706 [GRCh38]
Chr1:20960199 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.387+5G>C single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002776017] Chr1:20633940 [GRCh38]
Chr1:20960433 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.203_204delinsCT (p.Arg68Pro) indel Autosomal recessive early-onset Parkinson disease 6 [RCV002904166] Chr1:20633751..20633752 [GRCh38]
Chr1:20960244..20960245 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.837C>T (p.Arg279=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002967673] Chr1:20644550 [GRCh38]
Chr1:20971043 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.737G>A (p.Arg246Gln) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002948006] Chr1:20639953 [GRCh38]
Chr1:20966446 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.556A>G (p.Lys186Glu) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002885977]|Inborn genetic diseases [RCV002882275] Chr1:20638010 [GRCh38]
Chr1:20964503 [GRCh37]
Chr1:1p36.12
likely benign|uncertain significance
NM_032409.3(PINK1):c.864_865delinsAA (p.Pro289Thr) indel Autosomal recessive early-onset Parkinson disease 6 [RCV002617827] Chr1:20644577..20644578 [GRCh38]
Chr1:20971070..20971071 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.65C>T (p.Thr22Met) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002908522] Chr1:20633613 [GRCh38]
Chr1:20960106 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1398C>T (p.Tyr466=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002866062] Chr1:20649141 [GRCh38]
Chr1:20975634 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.639C>T (p.Ala213=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002755427] Chr1:20638093 [GRCh38]
Chr1:20964586 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.288C>G (p.Cys96Trp) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV003076166] Chr1:20633836 [GRCh38]
Chr1:20960329 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.662T>C (p.Met221Thr) single nucleotide variant Inborn genetic diseases [RCV002793658] Chr1:20638116 [GRCh38]
Chr1:20964609 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.472A>G (p.Ile158Val) single nucleotide variant not provided [RCV002462645] Chr1:20637926 [GRCh38]
Chr1:20964419 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.512A>G (p.Tyr171Cys) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002618652] Chr1:20637966 [GRCh38]
Chr1:20964459 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1501C>T (p.Arg501Ter) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002908184]|not provided [RCV003149043] Chr1:20650446 [GRCh38]
Chr1:20976939 [GRCh37]
Chr1:1p36.12
pathogenic|likely pathogenic
NM_032409.3(PINK1):c.853G>A (p.Val285Met) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002785720] Chr1:20644566 [GRCh38]
Chr1:20971059 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.413C>G (p.Pro138Arg) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002953628] Chr1:20637867 [GRCh38]
Chr1:20964360 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.616G>A (p.Glu206Lys) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV003078652] Chr1:20638070 [GRCh38]
Chr1:20964563 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.388-5C>T single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002885976] Chr1:20637837 [GRCh38]
Chr1:20964330 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.1107T>C (p.Leu369=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV003078146] Chr1:20645707 [GRCh38]
Chr1:20972200 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.1099A>C (p.Asn367His) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002735179] Chr1:20645699 [GRCh38]
Chr1:20972192 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1631_1632delinsCT (p.Leu544Pro) indel Autosomal recessive early-onset Parkinson disease 6 [RCV002705776] Chr1:20650576..20650577 [GRCh38]
Chr1:20977069..20977070 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.184G>C (p.Gly62Arg) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002609969]|Inborn genetic diseases [RCV002621788] Chr1:20633732 [GRCh38]
Chr1:20960225 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.710del (p.Met237fs) deletion Autosomal recessive early-onset Parkinson disease 6 [RCV002913039] Chr1:20639926 [GRCh38]
Chr1:20966419 [GRCh37]
Chr1:1p36.12
pathogenic
NM_032409.3(PINK1):c.1560G>A (p.Lys520=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002780907] Chr1:20650505 [GRCh38]
Chr1:20976998 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.129G>A (p.Gly43=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002694951] Chr1:20633677 [GRCh38]
Chr1:20960170 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.328C>A (p.Leu110Ile) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002912640] Chr1:20633876 [GRCh38]
Chr1:20960369 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1124-10T>C single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002785486] Chr1:20648495 [GRCh38]
Chr1:20974988 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.387+15G>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002912664] Chr1:20633950 [GRCh38]
Chr1:20960443 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.1252-20C>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV003035564] Chr1:20648975 [GRCh38]
Chr1:20975468 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.202C>T (p.Arg68Cys) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002690857] Chr1:20633750 [GRCh38]
Chr1:20960243 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1488+20C>T single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002886441] Chr1:20649251 [GRCh38]
Chr1:20975744 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.998C>T (p.Thr333Ile) single nucleotide variant Inborn genetic diseases [RCV002845006] Chr1:20645598 [GRCh38]
Chr1:20972091 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.754G>A (p.Glu252Lys) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV003081211] Chr1:20639970 [GRCh38]
Chr1:20966463 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.385C>G (p.Gln129Glu) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV003100575] Chr1:20633933 [GRCh38]
Chr1:20960426 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.85T>G (p.Tyr29Asp) single nucleotide variant Inborn genetic diseases [RCV002697681] Chr1:20633633 [GRCh38]
Chr1:20960126 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1356C>T (p.Pro452=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV003084605] Chr1:20649099 [GRCh38]
Chr1:20975592 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.913C>G (p.Pro305Ala) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV003059762] Chr1:20644626 [GRCh38]
Chr1:20971119 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.91T>G (p.Leu31Val) single nucleotide variant Inborn genetic diseases [RCV002713041] Chr1:20633639 [GRCh38]
Chr1:20960132 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1252-18C>T single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002643973] Chr1:20648977 [GRCh38]
Chr1:20975470 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.425C>T (p.Pro142Leu) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV003041839] Chr1:20637879 [GRCh38]
Chr1:20964372 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1271G>A (p.Gly424Asp) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002957601] Chr1:20649014 [GRCh38]
Chr1:20975507 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.960-8T>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV003022349] Chr1:20645552 [GRCh38]
Chr1:20972045 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1130G>T (p.Cys377Phe) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002625282] Chr1:20648511 [GRCh38]
Chr1:20975004 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1265G>A (p.Arg422His) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002917345]|not provided [RCV003481346] Chr1:20649008 [GRCh38]
Chr1:20975501 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.223G>T (p.Ala75Ser) single nucleotide variant Inborn genetic diseases [RCV002708782] Chr1:20633771 [GRCh38]
Chr1:20960264 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1510G>A (p.Ala504Thr) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV003083106] Chr1:20650455 [GRCh38]
Chr1:20976948 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.314G>T (p.Gly105Val) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV003041173] Chr1:20633862 [GRCh38]
Chr1:20960355 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.388-18A>G single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002893905] Chr1:20637824 [GRCh38]
Chr1:20964317 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.786G>C (p.Lys262Asn) single nucleotide variant Inborn genetic diseases [RCV002930384] Chr1:20644499 [GRCh38]
Chr1:20970992 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.776+18G>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002644459] Chr1:20640010 [GRCh38]
Chr1:20966503 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.676-17C>G single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV003022880] Chr1:20639875 [GRCh38]
Chr1:20966368 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.364G>C (p.Val122Leu) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002931940] Chr1:20633912 [GRCh38]
Chr1:20960405 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1600C>T (p.Gln534Ter) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002857327] Chr1:20650545 [GRCh38]
Chr1:20977038 [GRCh37]
Chr1:1p36.12
pathogenic
NM_032409.3(PINK1):c.1176G>C (p.Glu392Asp) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002770257] Chr1:20648557 [GRCh38]
Chr1:20975050 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.170_175dup (p.Arg58_Val59insGlyArg) duplication Autosomal recessive early-onset Parkinson disease 6 [RCV002648130] Chr1:20633717..20633718 [GRCh38]
Chr1:20960210..20960211 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1099A>T (p.Asn367Tyr) single nucleotide variant Inborn genetic diseases [RCV002719393] Chr1:20645699 [GRCh38]
Chr1:20972192 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.388-3C>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV003089580] Chr1:20637839 [GRCh38]
Chr1:20964332 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.398C>T (p.Thr133Ile) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV003089581] Chr1:20637852 [GRCh38]
Chr1:20964345 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1273C>T (p.Pro425Ser) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002895468] Chr1:20649016 [GRCh38]
Chr1:20975509 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.196C>T (p.Arg66Cys) single nucleotide variant Inborn genetic diseases [RCV003008762] Chr1:20633744 [GRCh38]
Chr1:20960237 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1527_1530dup (p.Leu511fs) duplication Autosomal recessive early-onset Parkinson disease 6 [RCV003027398] Chr1:20650471..20650472 [GRCh38]
Chr1:20976964..20976965 [GRCh37]
Chr1:1p36.12
likely pathogenic
NM_032409.3(PINK1):c.1367A>G (p.Gln456Arg) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002746381] Chr1:20649110 [GRCh38]
Chr1:20975603 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.377A>C (p.Gln126Pro) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002630051] Chr1:20633925 [GRCh38]
Chr1:20960418 [GRCh37]
Chr1:1p36.12
likely pathogenic
NM_032409.3(PINK1):c.384C>A (p.Ile128=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002721568] Chr1:20633932 [GRCh38]
Chr1:20960425 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.173G>A (p.Arg58Lys) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV003050992] Chr1:20633721 [GRCh38]
Chr1:20960214 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.599C>T (p.Ala200Val) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV003092561] Chr1:20638053 [GRCh38]
Chr1:20964546 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1123+12C>G single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV003051380] Chr1:20645735 [GRCh38]
Chr1:20972228 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.1488+14C>T single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV003071675] Chr1:20649245 [GRCh38]
Chr1:20975738 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.1123+11G>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002607783] Chr1:20645734 [GRCh38]
Chr1:20972227 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.1352A>T (p.Asn451Ile) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV003072363] Chr1:20649095 [GRCh38]
Chr1:20975588 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.1123+15C>T single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV002609970] Chr1:20645738 [GRCh38]
Chr1:20972231 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.654C>T (p.Ile218=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV003073114] Chr1:20638108 [GRCh38]
Chr1:20964601 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.776+2110G>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV003134926] Chr1:20642102 [GRCh38]
Chr1:20968595 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.776+2032G>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV003134925] Chr1:20642024 [GRCh38]
Chr1:20968517 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.823A>G (p.Ile275Val) single nucleotide variant not provided [RCV003229275] Chr1:20644536 [GRCh38]
Chr1:20971029 [GRCh37]
Chr1:1p36.12
uncertain significance
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 copy number gain Trisomy 12p [RCV003447845] Chr1:99125..34026935 [GRCh38]
Chr1:1p36.33-35.1
pathogenic
NM_032409.3(PINK1):c.531A>G (p.Thr177=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV003603777] Chr1:20637985 [GRCh38]
Chr1:20964478 [GRCh37]
Chr1:1p36.12
likely benign
GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4 copy number gain not provided [RCV003485339] Chr1:17291707..23016395 [GRCh37]
Chr1:1p36.13-36.12
likely pathogenic
NM_032409.3(PINK1):c.1099A>G (p.Asn367Asp) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV003388718] Chr1:20645699 [GRCh38]
Chr1:20972192 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.385C>T (p.Gln129Ter) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV003388717] Chr1:20633933 [GRCh38]
Chr1:20960426 [GRCh37]
Chr1:1p36.12
likely pathogenic
NM_032409.3(PINK1):c.960-2A>G single nucleotide variant PINK1-related condition [RCV003397247] Chr1:20645558 [GRCh38]
Chr1:20972051 [GRCh37]
Chr1:1p36.12
likely pathogenic
NM_032409.3(PINK1):c.943T>C (p.Phe315Leu) single nucleotide variant Neuroblastoma [RCV003444049] Chr1:20644656 [GRCh38]
Chr1:20971149 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.241T>C (p.Leu81=) single nucleotide variant not provided [RCV003412858] Chr1:20633789 [GRCh38]
Chr1:20960282 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.776+1G>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV003604241] Chr1:20639993 [GRCh38]
Chr1:20966486 [GRCh37]
Chr1:1p36.12
likely pathogenic
NM_032409.3(PINK1):c.309del (p.Phe104fs) deletion Autosomal recessive early-onset Parkinson disease 6 [RCV003604567] Chr1:20633856 [GRCh38]
Chr1:20960349 [GRCh37]
Chr1:1p36.12
pathogenic
NM_032409.3(PINK1):c.668A>T (p.Asn223Ile) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV003604976] Chr1:20638122 [GRCh38]
Chr1:20964615 [GRCh37]
Chr1:1p36.12
uncertain significance
NM_032409.3(PINK1):c.776+7G>A single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV003604404] Chr1:20639999 [GRCh38]
Chr1:20966492 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.1155_1156insTGCCCGCGTCCCTTTCTCCATAAAATTCTTCTTAGTAGCTA (p.Gly386delinsCysProArgProPheLeuHisLysIleLeuLeuSerSerTer) insertion Autosomal recessive early-onset Parkinson disease 6 [RCV003604966] Chr1:20648536..20648537 [GRCh38]
Chr1:20975029..20975030 [GRCh37]
Chr1:1p36.12
pathogenic
NM_032409.3(PINK1):c.426G>C (p.Pro142=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV003604778] Chr1:20637880 [GRCh38]
Chr1:20964373 [GRCh37]
Chr1:1p36.12
likely benign
NM_032409.3(PINK1):c.630G>A (p.Gly210=) single nucleotide variant Autosomal recessive early-onset Parkinson disease 6 [RCV003603551] Chr1:20638084 [GRCh38]
Chr1:20964577 [GRCh37]
Chr1:1p36.12
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:534
Count of miRNA genes:424
Interacting mature miRNAs:468
Transcripts:ENST00000321556, ENST00000400490, ENST00000492302
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D1S2674  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37124,849,948 - 24,850,203UniSTSGRCh37
Build 36124,722,535 - 24,722,790RGDNCBI36
Celera123,177,117 - 23,177,366RGD
Cytogenetic Map1p36UniSTS
Cytogenetic Map1p35.3-p33UniSTS
HuRef123,105,317 - 23,105,572UniSTS
Marshfield Genetic Map154.3RGD
Marshfield Genetic Map154.3UniSTS
Genethon Genetic Map155.7UniSTS
TNG Radiation Hybrid Map110513.0UniSTS
Stanford-G3 RH Map11076.0UniSTS
GeneMap99-GB4 RH Map183.6UniSTS
NCBI RH Map1124.2UniSTS
GeneMap99-G3 RH Map11346.0UniSTS
D1S478  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37121,599,727 - 21,599,897UniSTSGRCh37
Build 36121,472,314 - 21,472,484RGDNCBI36
Celera119,924,617 - 19,924,787RGD
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map1p36UniSTS
HuRef119,845,412 - 19,845,586UniSTS
Marshfield Genetic Map148.53RGD
Marshfield Genetic Map148.53UniSTS
Genethon Genetic Map149.6UniSTS
deCODE Assembly Map140.0UniSTS
GeneMap99-GB4 RH Map178.14UniSTS
Whitehead-RH Map169.6UniSTS
NCBI RH Map1110.0UniSTS
SHGC-2365  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37120,977,510 - 20,977,777UniSTSGRCh37
Build 36120,850,097 - 20,850,364RGDNCBI36
Celera119,301,688 - 19,301,955RGD
Cytogenetic Map1p36UniSTS
HuRef119,223,639 - 19,223,906UniSTS
TNG Radiation Hybrid Map18116.0UniSTS
Stanford-G3 RH Map1987.0UniSTS
GeneMap99-GB4 RH Map175.38UniSTS
Whitehead-RH Map168.2UniSTS
NCBI RH Map1104.1UniSTS
GeneMap99-G3 RH Map11257.0UniSTS
RH91506  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37120,977,594 - 20,977,764UniSTSGRCh37
Build 36120,850,181 - 20,850,351RGDNCBI36
Celera119,301,772 - 19,301,942RGD
Cytogenetic Map1p36UniSTS
HuRef119,223,723 - 19,223,893UniSTS
GeneMap99-GB4 RH Map174.02UniSTS
D1S2015E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37120,976,942 - 20,977,029UniSTSGRCh37
Build 36120,849,529 - 20,849,616RGDNCBI36
Celera119,301,120 - 19,301,207RGD
Cytogenetic Map1p36UniSTS
HuRef119,223,071 - 19,223,158UniSTS
G34804  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37120,977,563 - 20,977,669UniSTSGRCh37
Build 36120,850,150 - 20,850,256RGDNCBI36
Celera119,301,741 - 19,301,847RGD
Cytogenetic Map1p36UniSTS
HuRef119,223,692 - 19,223,798UniSTS
RH12430  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37120,977,008 - 20,977,171UniSTSGRCh37
Build 36120,849,595 - 20,849,758RGDNCBI36
Celera119,301,186 - 19,301,349RGD
Cytogenetic Map1p36UniSTS
HuRef119,223,137 - 19,223,300UniSTS
GeneMap99-GB4 RH Map175.38UniSTS
WI-15835  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37120,977,065 - 20,977,199UniSTSGRCh37
Build 36120,849,652 - 20,849,786RGDNCBI36
Celera119,301,243 - 19,301,377RGD
Cytogenetic Map1p36UniSTS
HuRef119,223,194 - 19,223,328UniSTS
GeneMap99-GB4 RH Map175.38UniSTS
Whitehead-RH Map168.2UniSTS
NCBI RH Map1104.1UniSTS
A001Z12  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37120,977,666 - 20,977,774UniSTSGRCh37
Build 36120,850,253 - 20,850,361RGDNCBI36
Celera119,301,844 - 19,301,952RGD
Celera119,303,438 - 19,303,546UniSTS
Cytogenetic Map1p36UniSTS
HuRef119,223,795 - 19,223,903UniSTS
GeneMap99-GB4 RH Map174.02UniSTS
NCBI RH Map1104.1UniSTS
G19810  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37120,977,666 - 20,977,774UniSTSGRCh37
Build 36120,850,253 - 20,850,361RGDNCBI36
Celera119,303,438 - 19,303,546UniSTS
Celera119,301,844 - 19,301,952RGD
Cytogenetic Map1p36UniSTS
HuRef119,223,795 - 19,223,903UniSTS
RH64541  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37120,977,505 - 20,977,620UniSTSGRCh37
Build 36120,850,092 - 20,850,207RGDNCBI36
Celera119,301,683 - 19,301,798RGD
Cytogenetic Map1p36UniSTS
HuRef119,223,634 - 19,223,749UniSTS
GeneMap99-GB4 RH Map175.38UniSTS
NCBI RH Map1110.0UniSTS
D19S997  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37120,977,648 - 20,977,764UniSTSGRCh37
Build 36120,850,235 - 20,850,351RGDNCBI36
Celera119,301,826 - 19,301,942RGD
Cytogenetic Map1p36UniSTS
HuRef119,223,777 - 19,223,893UniSTS
TNG Radiation Hybrid Map18112.0UniSTS
Stanford-G3 RH Map1980.0UniSTS
GeneMap99-G3 RH Map11250.0UniSTS
D1S483  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map1p36UniSTS
Marshfield Genetic Map145.33UniSTS
Genethon Genetic Map149.6UniSTS
deCODE Assembly Map136.92UniSTS
GeneMap99-GB4 RH Map170.44UniSTS
Whitehead-RH Map166.4UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 2278 2785 1516 455 1149 297 4267 2047 3638 354 1354 1501 170 1188 2784 3
Low 156 204 207 167 756 167 89 149 91 63 97 108 5 1 16 4 1
Below cutoff 1 2 44 1 4 2 7 3 1

Sequence


RefSeq Acc Id: ENST00000321556   ⟹   ENSP00000364204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl120,633,458 - 20,651,511 (+)Ensembl
RefSeq Acc Id: ENST00000400490
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl120,645,508 - 20,651,510 (+)Ensembl
RefSeq Acc Id: ENST00000492302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl120,638,129 - 20,651,316 (+)Ensembl
RefSeq Acc Id: NM_032409   ⟹   NP_115785
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38120,633,458 - 20,651,511 (+)NCBI
GRCh37120,959,948 - 20,978,004 (+)ENTREZGENE
Build 36120,832,535 - 20,850,591 (+)NCBI Archive
HuRef119,206,074 - 19,224,136 (+)ENTREZGENE
CHM1_1121,070,747 - 21,088,823 (+)NCBI
T2T-CHM13v2.0120,459,649 - 20,477,706 (+)NCBI
Sequence:
RefSeq Acc Id: NP_115785   ⟸   NM_032409
- Peptide Label: precursor
- UniProtKB: Q8NBU3 (UniProtKB/Swiss-Prot),   Q8N6T9 (UniProtKB/Swiss-Prot),   Q96DE4 (UniProtKB/Swiss-Prot),   Q9BXM7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000364204   ⟸   ENST00000321556
Protein Domains
Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BXM7-F1-model_v2 AlphaFold Q9BXM7 1-581 view protein structure

Promoters
RGD ID:6854378
Promoter ID:EPDNEW_H354
Type:initiation region
Name:PINK1_1
Description:PTEN induced putative kinase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38120,633,478 - 20,633,538EPDNEW
RGD ID:6786247
Promoter ID:HG_KWN:1146
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_032409
Position:
Human AssemblyChrPosition (strand)Source
Build 36120,832,326 - 20,832,826 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14581 AgrOrtholog
COSMIC PINK1 COSMIC
Ensembl Genes ENSG00000158828 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000321556 ENTREZGENE
  ENST00000321556.5 UniProtKB/Swiss-Prot
Gene3D-CATH Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot
GTEx ENSG00000158828 GTEx
HGNC ID HGNC:14581 ENTREZGENE
Human Proteome Map PINK1 Human Proteome Map
InterPro Kinase-like_dom UniProtKB/Swiss-Prot
  PINK1_STKc UniProtKB/Swiss-Prot
  Prot_kinase_cat_dom UniProtKB/Swiss-Prot
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot
KEGG Report hsa:65018 UniProtKB/Swiss-Prot
NCBI Gene 65018 ENTREZGENE
OMIM 608309 OMIM
PANTHER SERINE/THREONINE PROTEIN KINASE UniProtKB/Swiss-Prot
  SERINE/THREONINE-PROTEIN KINASE PINK1, MITOCHONDRIAL UniProtKB/Swiss-Prot
Pfam Pkinase UniProtKB/Swiss-Prot
PharmGKB PA33325 PharmGKB
PROSITE PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot
SMART S_TKc UniProtKB/Swiss-Prot
Superfamily-SCOP Kinase_like UniProtKB/Swiss-Prot
UniProt PINK1_HUMAN UniProtKB/Swiss-Prot
  Q8N6T9 ENTREZGENE
  Q8NBU3 ENTREZGENE
  Q96DE4 ENTREZGENE
  Q9BXM7 ENTREZGENE
UniProt Secondary Q8N6T9 UniProtKB/Swiss-Prot
  Q8NBU3 UniProtKB/Swiss-Prot
  Q96DE4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-09-04 PINK1  PTEN induced kinase 1    PTEN induced putative kinase 1  Symbol and/or name change 5135510 APPROVED
2016-04-05 PINK1  PTEN induced putative kinase 1  PARK6  Parkinson disease (autosomal recessive) 6  Data merged from RGD:1354265 737654 PROVISIONAL