SLC6A3 (solute carrier family 6 member 3) - Rat Genome Database

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Gene: SLC6A3 (solute carrier family 6 member 3) Homo sapiens
Analyze
Symbol: SLC6A3
Name: solute carrier family 6 member 3
RGD ID: 733809
HGNC Page HGNC
Description: Enables dopamine:sodium symporter activity. Involved in dopamine uptake. Acts upstream of or within monoamine transport. Located in several cellular components, including cell surface; membrane raft; and neuronal cell body. Part of flotillin complex. Implicated in attention deficit hyperactivity disorder; nicotine dependence; and obesity.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DA transporter; DAT; DAT1; dopamine transporter 1; PKDYS; PKDYS1; sodium-dependent dopamine transporter; solute carrier family 6 (neurotransmitter transporter), member 3; solute carrier family 6 (neurotransmitter transporter, dopamine), member 3; solute carrier family 6, member 3
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
GRCh38.p13 Ensembl51,392,794 - 1,445,440 (-)EnsemblGRCh38hg38GRCh38
GRCh3851,392,794 - 1,445,440 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3751,392,909 - 1,445,555 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3651,445,909 - 1,498,538 (-)NCBINCBI36hg18NCBI36
Build 3451,445,908 - 1,498,543NCBI
Celera51,429,610 - 1,484,220 (-)NCBI
Cytogenetic Map5p15.33NCBI
HuRef51,373,680 - 1,426,892 (-)NCBIHuRef
CHM1_151,392,820 - 1,445,528 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(20S)-ginsenoside Rg3  (ISO)
(R)-noradrenaline  (EXP)
(R)-octopamine  (EXP)
(S)-amphetamine  (EXP,ISO)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
1-[2-(benzhydryloxy)ethyl]-4-(3-phenylpropyl)piperazine  (ISO)
1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile  (EXP,ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,5-dimethoxy-4-bromophenethylamine  (EXP)
2-aminopropiophenone  (ISO)
2-phenylethylamine  (EXP)
3,4-methylenedioxymethamphetamine  (EXP)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-nitrotoluene  (ISO)
7-NITROINDAZOLE  (ISO)
acrylamide  (ISO)
albiflorin  (ISO)
alcohol  (ISO)
all-trans-retinoic acid  (EXP)
alpha,alpha-trehalose  (ISO)
AM-251  (ISO)
aminorex  (ISO)
ammonium chloride  (ISO)
amphetamine  (EXP,ISO)
Aroclor 1254  (ISO)
arsenite(3-)  (ISO)
atrazine  (ISO)
benzatropine  (EXP)
benzo[a]pyrene  (EXP)
benzo[e]pyrene  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bupropion  (EXP)
butyric acid  (ISO)
cadmium dichloride  (EXP)
caffeine  (EXP,ISO)
calcitriol  (EXP)
carbamazepine  (EXP)
chlorpyrifos  (ISO)
citalopram  (EXP,ISO)
clozapine  (EXP)
cocaine  (EXP,ISO)
crocidolite asbestos  (EXP)
curcumin  (EXP)
cyhalothrin  (ISO)
DDD  (ISO)
DDE  (ISO)
DDT  (ISO)
Deguelin  (EXP)
dextran sulfate  (ISO)
diazinon  (ISO)
dieldrin  (ISO)
diethyldithiocarbamic acid  (ISO)
diethylstilbestrol  (ISO)
dihydro-beta-erythroidine  (ISO)
dopamine  (EXP,ISO)
elemental selenium  (ISO)
endosulfan  (ISO)
estrone  (ISO)
ethanol  (ISO)
fluoxetine  (EXP,ISO)
ganglioside GM1  (ISO)
geraniol  (ISO)
glyburide  (ISO)
haloperidol  (ISO)
heptachlor  (ISO)
herbicide  (ISO)
ibogaine  (EXP)
ibuprofen  (ISO)
iron atom  (ISO)
iron(0)  (ISO)
isoliquiritigenin  (ISO)
ketamine  (EXP)
linalool  (ISO)
lipopolysaccharide  (ISO)
maneb  (EXP,ISO)
manganese atom  (EXP,ISO)
manganese(0)  (EXP,ISO)
manganese(II) chloride  (ISO)
Mazindol  (EXP,ISO)
Mecamylamine  (ISO)
melatonin  (ISO)
melittin  (EXP)
mephedrone  (ISO)
mepyramine  (EXP)
methamphetamine  (EXP,ISO)
methapyrilene  (EXP)
methcathinone  (EXP)
methoxychlor  (ISO)
methylmercury chloride  (ISO)
methylphenidate  (EXP,ISO)
minocycline  (ISO)
modafinil  (EXP,ISO)
monensin A  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-4-phenylpyridinium  (EXP,ISO)
naltrexone  (EXP,ISO)
nicotine  (ISO)
nomifensine  (EXP,ISO)
Nonylphenol  (ISO)
octopamine  (EXP)
oleic acid  (ISO)
oxidopamine  (ISO)
paraquat  (EXP,ISO)
permethrin  (EXP,ISO)
phorbol 13-acetate 12-myristate  (EXP)
picoxystrobin  (EXP)
piperazines  (EXP)
piperidines  (EXP)
pirinixic acid  (EXP,ISO)
probenecid  (ISO)
propofol  (ISO)
quinolinic acid  (ISO)
quinpirole  (EXP,ISO)
raloxifene  (ISO)
reboxetine  (ISO)
reserpine  (ISO)
rotenone  (EXP,ISO)
rottlerin  (ISO)
SCH 23390  (ISO)
selenium atom  (ISO)
serotonin  (EXP)
simazine  (ISO)
staurosporine  (EXP)
sulpiride  (EXP,ISO)
tamoxifen  (ISO)
telmisartan  (ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
thifluzamide  (EXP)
titanium dioxide  (ISO)
toluene  (ISO)
trichostatin A  (ISO)
triphenyl phosphate  (ISO)
tryptamine  (EXP)
tyramine  (EXP)
valproic acid  (EXP,ISO)
vanoxerine dihydrochloride  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP)
WIN 55212-2  (ISO)
wortmannin  (EXP)
zinc atom  (EXP)
zinc sulfate  (ISO)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
alfentanil pharmacodynamics pathway  (EXP)
bupivacaine pharmacodynamics pathway  (EXP)
buprenorphine pharmacodynamics pathway  (EXP)
chloroprocaine pharmacodynamics pathway  (EXP)
citalopram pharmacodynamics pathway  (EXP)
cocaine pharmacodynamics pathway  (EXP)
codeine and morphine pharmacodynamics pathway  (EXP)
desipramine pharmacodynamics pathway  (EXP)
diphenoxylate pharmacodynamics pathway  (EXP)
escitalopram pharmacodynamics pathway  (EXP)
ethylmorphine pharmacodynamics pathway  (EXP)
fentanyl pharmacodynamics pathway  (EXP)
fluoxetine pharmacodynamics pathway  (EXP)
heroin pharmacodynamics pathway  (EXP)
hydrocodone pharmacodynamics pathway  (EXP)
hydromorphone pharmacodynamics pathway  (EXP)
imipramine pharmacodynamics pathway  (EXP)
levacetylmethadol pharmacodynamics pathway  (EXP)
levobupivacaine phgarmacodynamics pathway  (EXP)
levorphanol pharmacodynamics pathway  (EXP)
lidocaine pharmacodynamics pathway  (EXP)
mepivacaine pharmacodynamics pathway  (EXP)
methadone pharmacodynamics pathway  (EXP)
nalbuphine pharmacodynamics pathway  (EXP)
naloxone pharmacodynamics pathway  (EXP)
naltrexone pharmacodynamics pathway  (EXP)
nicotine pharmacodynamics pathway  (EXP)
oxybuprocaine pharmacodynamics pathway  (EXP)
oxycodone pharmacodynamics pathway  (EXP)
oxymorphone pharmacodynamics pathway  (EXP)
Parkinson's disease pathway  (IEA)
pentazocine pharmacodynamics pathway  (EXP)
prilocaine pharmacodynamics pathway  (EXP)
procaine pharmacodynamics pathway  (EXP)
remifentanil pharmacodynamics pathway  (EXP)
ropivacaine pharmacodynamics pathway  (EXP)
tramadol pharmacodynamics pathway  (EXP)

References

Additional References at PubMed
PMID:1353885   PMID:1359373   PMID:1406597   PMID:7637582   PMID:7717410   PMID:8302271   PMID:8628395   PMID:9300814   PMID:9398650   PMID:9703165   PMID:9837830   PMID:10363710  
PMID:10391209   PMID:10823899   PMID:10889531   PMID:11104840   PMID:11140838   PMID:11165777   PMID:11220753   PMID:11239904   PMID:11244477   PMID:11292651   PMID:11304827   PMID:11343649  
PMID:11378848   PMID:11449401   PMID:11505915   PMID:11558224   PMID:11774209   PMID:11798784   PMID:11803442   PMID:11803445   PMID:11807408   PMID:11820798   PMID:11834311   PMID:11911442  
PMID:11959130   PMID:11989984   PMID:12149916   PMID:12172219   PMID:12173460   PMID:12177201   PMID:12210886   PMID:12215242   PMID:12232785   PMID:12401557   PMID:12422069   PMID:12429746  
PMID:12453630   PMID:12457396   PMID:12459514   PMID:12464618   PMID:12465073   PMID:12477932   PMID:12513948   PMID:12579508   PMID:12605102   PMID:12630565   PMID:12650952   PMID:12658362  
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PMID:18937294   PMID:18937842   PMID:18973248   PMID:19025233   PMID:19058789   PMID:19086053   PMID:19091889   PMID:19098122   PMID:19104049   PMID:19120712   PMID:19142409   PMID:19146920  
PMID:19152006   PMID:19156168   PMID:19170196   PMID:19176830   PMID:19183461   PMID:19193883   PMID:19196467   PMID:19247849   PMID:19288168   PMID:19304505   PMID:19309018   PMID:19352218  
PMID:19352220   PMID:19357284   PMID:19360691   PMID:19364291   PMID:19368898   PMID:19376159   PMID:19388000   PMID:19390575   PMID:19409950   PMID:19418498   PMID:19443134   PMID:19447357  
PMID:19450132   PMID:19478460   PMID:19482231   PMID:19490304   PMID:19494806   PMID:19506579   PMID:19506906   PMID:19513381   PMID:19519258   PMID:19576958   PMID:19590515   PMID:19590691  
PMID:19621370   PMID:19625176   PMID:19647327   PMID:19655343   PMID:19664686   PMID:19666577   PMID:19673036   PMID:19676101   PMID:19692168   PMID:19693267   PMID:19717274   PMID:19726478  
PMID:19728374   PMID:19739106   PMID:19740369   PMID:19761593   PMID:19764480   PMID:19764934   PMID:19766158   PMID:19766189   PMID:19767592   PMID:19769301   PMID:19772578   PMID:19779799  
PMID:19789190   PMID:19796878   PMID:19805704   PMID:19818050   PMID:19819301   PMID:19827313   PMID:19844206   PMID:19858760   PMID:19874574   PMID:19879111   PMID:19884604   PMID:19890261  
PMID:19892410   PMID:19906444   PMID:19944766   PMID:19956635   PMID:19960520   PMID:20006992   PMID:20018661   PMID:20021740   PMID:20026227   PMID:20033274   PMID:20041956   PMID:20049490  
PMID:20051513   PMID:20053379   PMID:20074437   PMID:20086298   PMID:20091113   PMID:20098830   PMID:20117122   PMID:20132487   PMID:20141527   PMID:20141587   PMID:20146095   PMID:20161733  
PMID:20170711   PMID:20179766   PMID:20205808   PMID:20210499   PMID:20218802   PMID:20301402   PMID:20332413   PMID:20338240   PMID:20367960   PMID:20391341   PMID:20427663   PMID:20430042  
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PMID:24625311   PMID:24633632   PMID:24657591   PMID:24680725   PMID:24696011   PMID:24708432   PMID:24723432   PMID:24753048   PMID:24780147   PMID:24824713   PMID:24849661   PMID:24889756  
PMID:24911152   PMID:24929324   PMID:24946437   PMID:25019689   PMID:25038551   PMID:25086665   PMID:25093598   PMID:25109468   PMID:25130782   PMID:25179220   PMID:25212851   PMID:25237117  
PMID:25247548   PMID:25271118   PMID:25313507   PMID:25326467   PMID:25326468   PMID:25331903   PMID:25339174   PMID:25411502   PMID:25439653   PMID:25468771   PMID:25496873   PMID:25526961  
PMID:25547317   PMID:25555995   PMID:25604666   PMID:25617181   PMID:25656223   PMID:25656446   PMID:25683821   PMID:25684044   PMID:25687785   PMID:25695767   PMID:25747272   PMID:25753457  
PMID:25774383   PMID:25804664   PMID:25805645   PMID:25840828   PMID:25850298   PMID:25850966   PMID:25862379   PMID:25915480   PMID:25924976   PMID:25963949   PMID:26006708   PMID:26041607  
PMID:26048990   PMID:26058807   PMID:26073896   PMID:26096461   PMID:26120847   PMID:26149737   PMID:26160290   PMID:26206710   PMID:26245713   PMID:26255829   PMID:26305376   PMID:26342565  
PMID:26350252   PMID:26442590   PMID:26466362   PMID:26471374   PMID:26478196   PMID:26504078   PMID:26514267   PMID:26559242   PMID:26593110   PMID:26613685   PMID:26621748   PMID:26707863  
PMID:26729744   PMID:26786096   PMID:26831905   PMID:26843006   PMID:26918589   PMID:26935821   PMID:26984412   PMID:26986136   PMID:26991370   PMID:27045841   PMID:27049476   PMID:27097961  
PMID:27160695   PMID:27167478   PMID:27219321   PMID:27250920   PMID:27268567   PMID:27287604   PMID:27294367   PMID:27327562   PMID:27353511   PMID:27425420   PMID:27490263   PMID:27547496  
PMID:27555326   PMID:27663598   PMID:27676100   PMID:27786532   PMID:27860344   PMID:27873141   PMID:27882466   PMID:27966610   PMID:27986813   PMID:28055236   PMID:28101524   PMID:28139629  
PMID:28176268   PMID:28182634   PMID:28234207   PMID:28278565   PMID:28337537   PMID:28349825   PMID:28376280   PMID:28393838   PMID:28454051   PMID:28582390   PMID:28584050   PMID:28666839  
PMID:28710426   PMID:28734904   PMID:28749637   PMID:28757070   PMID:28797200   PMID:28803562   PMID:28890000   PMID:28894302   PMID:28983843   PMID:29061424   PMID:29121332   PMID:29122229  
PMID:29145734   PMID:29155230   PMID:29172706   PMID:29294665   PMID:29299388   PMID:29332099   PMID:29361339   PMID:29362953   PMID:29430519   PMID:29433615   PMID:29546858   PMID:29559554  
PMID:29684537   PMID:29978616   PMID:29987050   PMID:29998543   PMID:30033547   PMID:30099719   PMID:30153408   PMID:30224467   PMID:30230123   PMID:30242586   PMID:30248905   PMID:30259411  
PMID:30310975   PMID:30316985   PMID:30317684   PMID:30472966   PMID:30531858   PMID:30587577   PMID:30695550   PMID:30705091   PMID:30755521   PMID:30923918   PMID:30991630   PMID:31067250  
PMID:31087723   PMID:31142432   PMID:31185047   PMID:31291231   PMID:31306870   PMID:31325142   PMID:31440993   PMID:31586043   PMID:31900314   PMID:32077500   PMID:32277231   PMID:32371614  
PMID:32415851   PMID:32554184   PMID:32557146   PMID:33138218   PMID:33469789   PMID:33579026   PMID:33667855   PMID:34118233  


Genomics

Comparative Map Data
SLC6A3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl51,392,794 - 1,445,440 (-)EnsemblGRCh38hg38GRCh38
GRCh3851,392,794 - 1,445,440 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3751,392,909 - 1,445,555 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3651,445,909 - 1,498,538 (-)NCBINCBI36hg18NCBI36
Build 3451,445,908 - 1,498,543NCBI
Celera51,429,610 - 1,484,220 (-)NCBI
Cytogenetic Map5p15.33NCBI
HuRef51,373,680 - 1,426,892 (-)NCBIHuRef
CHM1_151,392,820 - 1,445,528 (-)NCBICHM1_1
Slc6a3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391373,684,270 - 73,726,791 (+)NCBIGRCm39mm39
GRCm39 Ensembl1373,684,866 - 73,726,791 (+)Ensembl
GRCm381373,536,128 - 73,578,672 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1373,536,747 - 73,578,672 (+)EnsemblGRCm38mm10GRCm38
MGSCv371373,674,195 - 73,716,120 (+)NCBIGRCm37mm9NCBIm37
MGSCv361374,002,749 - 74,044,674 (+)NCBImm8
Celera1375,865,546 - 75,907,463 (+)NCBICelera
Cytogenetic Map13C1NCBI
cM Map1340.1NCBI
Slc6a3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2129,709,443 - 29,750,413 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl129,709,443 - 29,750,413 (-)Ensembl
Rnor_6.0132,323,011 - 32,363,983 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl132,321,580 - 32,363,983 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0133,745,060 - 33,788,878 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4130,516,568 - 30,557,540 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1130,518,078 - 30,558,861 (-)NCBI
Celera128,357,426 - 28,397,883 (-)NCBICelera
Cytogenetic Map1p11NCBI
Slc6a3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955504721,429 - 747,630 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955504721,470 - 747,553 (-)NCBIChiLan1.0ChiLan1.0
SLC6A3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.151,437,567 - 1,488,829 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl51,437,567 - 1,488,829 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v051,687,079 - 1,739,729 (-)NCBIMhudiblu_PPA_v0panPan3
SLC6A3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13411,209,118 - 11,245,456 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3411,210,939 - 11,246,742 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3415,719,083 - 15,755,282 (+)NCBI
ROS_Cfam_1.03411,109,747 - 11,147,167 (+)NCBI
UMICH_Zoey_3.13411,160,852 - 11,196,981 (+)NCBI
UNSW_CanFamBas_1.03411,139,913 - 11,176,047 (+)NCBI
UU_Cfam_GSD_1.03411,350,821 - 11,387,021 (+)NCBI
Slc6a3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213244,198,128 - 244,239,922 (+)NCBI
SpeTri2.0NW_004936815359,775 - 400,690 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC6A3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1679,186,108 - 79,220,297 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11679,186,114 - 79,220,302 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21685,853,611 - 85,887,787 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLC6A3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.141,209,013 - 1,258,797 (-)NCBI
ChlSab1.1 Ensembl41,209,019 - 1,258,866 (-)Ensembl
Vero_WHO_p1.0NW_02366605435,775,947 - 35,824,591 (-)NCBI
Slc6a3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624751694,165 - 720,287 (-)NCBI

Position Markers
GDB:392133  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3751,393,674 - 1,394,123UniSTSGRCh37
Build 3651,446,674 - 1,447,123RGDNCBI36
Celera51,430,379 - 1,430,828RGD
Cytogenetic Map5p15.3UniSTS
HuRef51,374,449 - 1,374,898UniSTS
GDB:194281  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3751,393,641 - 1,394,123UniSTSGRCh37
Celera51,430,346 - 1,430,828UniSTS
Cytogenetic Map5p15.3UniSTS
HuRef51,374,416 - 1,374,898UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2488
Count of miRNA genes:885
Interacting mature miRNAs:1060
Transcripts:ENST00000270349, ENST00000453492, ENST00000511750, ENST00000512002, ENST00000513308
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.


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 7 1 106 76 2 33 2 1
Low 293 215 647 29 62 10 557 141 424 59 807 1040 19 394 349 1
Below cutoff 1853 2233 723 300 1058 162 3158 1499 2335 171 523 417 145 1 765 1972 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_015885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB091308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB091309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB091310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC026748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC226057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF115382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF119117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF287465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF287466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH010012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI586989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY623110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC132977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC133003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS223367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D88570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF174603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HH935282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI939012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI939125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI939238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI987308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI988463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI988576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA032831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA033038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA033639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA142861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA188612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA188725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA282299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA288764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA421398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF701329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF701330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF701331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF701332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF701334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY471644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L24178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M95167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M96670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S44626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S46955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U92262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y10141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000270349   ⟹   ENSP00000270349
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl51,392,794 - 1,445,440 (-)Ensembl
RefSeq Acc Id: ENST00000511750
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl51,414,741 - 1,416,578 (-)Ensembl
RefSeq Acc Id: ENST00000512002
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl51,394,029 - 1,401,307 (-)Ensembl
RefSeq Acc Id: NM_001044   ⟹   NP_001035
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3851,392,794 - 1,445,440 (-)NCBI
GRCh3751,392,905 - 1,445,543 (-)ENTREZGENE
Build 3651,445,909 - 1,498,538 (-)NCBI Archive
HuRef51,373,680 - 1,426,892 (-)ENTREZGENE
CHM1_151,392,820 - 1,445,528 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001035 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA11754 (Get FASTA)   NCBI Sequence Viewer  
  AAA19560 (Get FASTA)   NCBI Sequence Viewer  
  AAA35770 (Get FASTA)   NCBI Sequence Viewer  
  AAB23443 (Get FASTA)   NCBI Sequence Viewer  
  AAC41720 (Get FASTA)   NCBI Sequence Viewer  
  AAC50179 (Get FASTA)   NCBI Sequence Viewer  
  AAC51876 (Get FASTA)   NCBI Sequence Viewer  
  AAD26197 (Get FASTA)   NCBI Sequence Viewer  
  AAG33844 (Get FASTA)   NCBI Sequence Viewer  
  AAI32978 (Get FASTA)   NCBI Sequence Viewer  
  AAI33004 (Get FASTA)   NCBI Sequence Viewer  
  AAT38106 (Get FASTA)   NCBI Sequence Viewer  
  ABO77644 (Get FASTA)   NCBI Sequence Viewer  
  BAA22511 (Get FASTA)   NCBI Sequence Viewer  
  CAA71229 (Get FASTA)   NCBI Sequence Viewer  
  CAJ46923 (Get FASTA)   NCBI Sequence Viewer  
  CBX36861 (Get FASTA)   NCBI Sequence Viewer  
  CBY79733 (Get FASTA)   NCBI Sequence Viewer  
  CBY79752 (Get FASTA)   NCBI Sequence Viewer  
  CBY79771 (Get FASTA)   NCBI Sequence Viewer  
  CBY88727 (Get FASTA)   NCBI Sequence Viewer  
  CBY88755 (Get FASTA)   NCBI Sequence Viewer  
  CBY88774 (Get FASTA)   NCBI Sequence Viewer  
  CCA61663 (Get FASTA)   NCBI Sequence Viewer  
  CCA61682 (Get FASTA)   NCBI Sequence Viewer  
  CCA61701 (Get FASTA)   NCBI Sequence Viewer  
  CCA64028 (Get FASTA)   NCBI Sequence Viewer  
  CCA64149 (Get FASTA)   NCBI Sequence Viewer  
  CCA64168 (Get FASTA)   NCBI Sequence Viewer  
  CCA65378 (Get FASTA)   NCBI Sequence Viewer  
  CCA65409 (Get FASTA)   NCBI Sequence Viewer  
  CCD32738 (Get FASTA)   NCBI Sequence Viewer  
  EAX08158 (Get FASTA)   NCBI Sequence Viewer  
  EAX08159 (Get FASTA)   NCBI Sequence Viewer  
  EAX08160 (Get FASTA)   NCBI Sequence Viewer  
  Q01959 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001035   ⟸   NM_001044
- UniProtKB: Q01959 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000270349   ⟸   ENST00000270349

Promoters
RGD ID:6869172
Promoter ID:EPDNEW_H7751
Type:multiple initiation site
Name:SLC6A3_1
Description:solute carrier family 6 member 3
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
GRCh3851,445,432 - 1,445,492EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
SLC6A3*9 variation Nicotine dependence, protection against [RCV000018247] Chr5:5p15.3 pathogenic|protective
NM_001044.5(SLC6A3):c.1843C>T (p.Arg615Cys) single nucleotide variant Parkinsonism-dystonia, infantile, 1 [RCV000542393] Chr5:1394755 [GRCh38]
Chr5:1394870 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.114C>G (p.Asn38Lys) single nucleotide variant Infantile dystonia-parkinsonism [RCV000546376] Chr5:1443084 [GRCh38]
Chr5:1443199 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.810C>T (p.Ala270=) single nucleotide variant Infantile dystonia-parkinsonism [RCV000530240] Chr5:1420686 [GRCh38]
Chr5:1420801 [GRCh37]
Chr5:5p15.33
benign
NM_001044.5(SLC6A3):c.1036G>A (p.Ala346Thr) single nucleotide variant Infantile dystonia-parkinsonism [RCV000545603] Chr5:1414811 [GRCh38]
Chr5:1414926 [GRCh37]
Chr5:5p15.33
likely benign|uncertain significance
NM_001044.5(SLC6A3):c.1269+1G>A single nucleotide variant Parkinsonism-dystonia, infantile, 1 [RCV000022531]|not provided [RCV000493130] Chr5:1411242 [GRCh38]
Chr5:1411357 [GRCh37]
Chr5:5p15.33
pathogenic
NM_001044.5(SLC6A3):c.1103T>A (p.Leu368Gln) single nucleotide variant Parkinsonism-dystonia, infantile, 1 [RCV000018249] Chr5:1414744 [GRCh38]
Chr5:1414859 [GRCh37]
Chr5:5p15.33
pathogenic
NM_001044.5(SLC6A3):c.1184C>T (p.Pro395Leu) single nucleotide variant Parkinsonism-dystonia, infantile, 1 [RCV000018250] Chr5:1411328 [GRCh38]
Chr5:1411443 [GRCh37]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1 copy number loss See cases [RCV000050295] Chr5:49978..15678451 [GRCh38]
Chr5:50093..15678560 [GRCh37]
Chr5:103093..15731560 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh38/hg38 5p15.33(chr5:22149-3404244)x1 copy number loss See cases [RCV000050885] Chr5:22149..3404244 [GRCh38]
Chr5:22149..3404358 [GRCh37]
Chr5:75149..3457358 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33(chr5:22149-1826256)x1 copy number loss See cases [RCV000050655] Chr5:22149..1826256 [GRCh38]
Chr5:22149..1826370 [GRCh37]
Chr5:75149..1879370 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33(chr5:49978-4014647)x1 copy number loss See cases [RCV000051100] Chr5:49978..4014647 [GRCh38]
Chr5:50093..4014761 [GRCh37]
Chr5:103093..4067761 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3 copy number gain See cases [RCV000051811] Chr5:54839..35680845 [GRCh38]
Chr5:54954..35680947 [GRCh37]
Chr5:107954..35716704 [NCBI36]
Chr5:5p15.33-13.2
pathogenic
GRCh38/hg38 5p15.33-15.31(chr5:21949-8872509)x3 copy number gain See cases [RCV000051808] Chr5:21949..8872509 [GRCh38]
Chr5:21949..8872621 [GRCh37]
Chr5:74949..8925621 [NCBI36]
Chr5:5p15.33-15.31
pathogenic
GRCh38/hg38 5p15.33-15.31(chr5:49778-8872509)x3 copy number gain See cases [RCV000051809] Chr5:49778..8872509 [GRCh38]
Chr5:49893..8872621 [GRCh37]
Chr5:102893..8925621 [NCBI36]
Chr5:5p15.33-15.31
pathogenic
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 copy number gain See cases [RCV000051810] Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12
pathogenic
GRCh38/hg38 5p15.33-15.31(chr5:22149-7213275)x1 copy number loss See cases [RCV000053397] Chr5:22149..7213275 [GRCh38]
Chr5:22149..7213388 [GRCh37]
Chr5:75149..7266388 [NCBI36]
Chr5:5p15.33-15.31
pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1 copy number loss See cases [RCV000053398] Chr5:22149..23132046 [GRCh38]
Chr5:22149..23132155 [GRCh37]
Chr5:75149..23167912 [NCBI36]
Chr5:5p15.33-14.3
pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-12004091)x1 copy number loss See cases [RCV000053399] Chr5:22149..12004091 [GRCh38]
Chr5:22149..12004203 [GRCh37]
Chr5:75149..12057203 [NCBI36]
Chr5:5p15.33-15.2
pathogenic
GRCh38/hg38 5p15.33(chr5:22149-3556942)x1 copy number loss See cases [RCV000053400] Chr5:22149..3556942 [GRCh38]
Chr5:22149..3557056 [GRCh37]
Chr5:75149..3610056 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-17425613)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]|See cases [RCV000053401] Chr5:22149..17425613 [GRCh38]
Chr5:22149..17425722 [GRCh37]
Chr5:75149..17478722 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-10044087)x1 copy number loss See cases [RCV000053416] Chr5:22149..10044087 [GRCh38]
Chr5:22149..10044199 [GRCh37]
Chr5:75149..10097199 [NCBI36]
Chr5:5p15.33-15.2
pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:22149-4580491)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053417]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053417]|See cases [RCV000053417] Chr5:22149..4580491 [GRCh38]
Chr5:22149..4580604 [GRCh37]
Chr5:75149..4633604 [NCBI36]
Chr5:5p15.33-15.32
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-15995341)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053418]|See cases [RCV000053418] Chr5:22149..15995341 [GRCh38]
Chr5:22149..15995450 [GRCh37]
Chr5:75149..16048450 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1 copy number loss See cases [RCV000053419] Chr5:22419..19280892 [GRCh38]
Chr5:22419..19281001 [GRCh37]
Chr5:75419..19316758 [NCBI36]
Chr5:5p15.33-14.3
pathogenic
GRCh38/hg38 5p15.33(chr5:37694-2746908)x1 copy number loss See cases [RCV000053420] Chr5:37694..2746908 [GRCh38]
Chr5:37692..2747022 [GRCh37]
Chr5:90692..2800022 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33(chr5:37694-2913205)x1 copy number loss See cases [RCV000053421] Chr5:37694..2913205 [GRCh38]
Chr5:37692..2913319 [GRCh37]
Chr5:90692..2966319 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:49778-16908798)x1 copy number loss See cases [RCV000053422] Chr5:49778..16908798 [GRCh38]
Chr5:49893..16908907 [GRCh37]
Chr5:102893..16961907 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:49778-4768868)x1 copy number loss See cases [RCV000053423] Chr5:49778..4768868 [GRCh38]
Chr5:49893..4768981 [GRCh37]
Chr5:102893..4821981 [NCBI36]
Chr5:5p15.33-15.32
pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:49778-19125522)x1 copy number loss See cases [RCV000053424] Chr5:49778..19125522 [GRCh38]
Chr5:49893..19125631 [GRCh37]
Chr5:102893..19161388 [NCBI36]
Chr5:5p15.33-14.3
pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:54839-5603401)x1 copy number loss See cases [RCV000053444] Chr5:54839..5603401 [GRCh38]
Chr5:54954..5603514 [GRCh37]
Chr5:107954..5656514 [NCBI36]
Chr5:5p15.33-15.32
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:547757-26541238)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]|See cases [RCV000053445] Chr5:547757..26541238 [GRCh38]
Chr5:547872..26541347 [GRCh37]
Chr5:600872..26577104 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
NM_001044.4(SLC6A3):c.1076C>T (p.Ser359Phe) single nucleotide variant Malignant melanoma [RCV000066763] Chr5:1414771 [GRCh38]
Chr5:1414886 [GRCh37]
Chr5:1467886 [NCBI36]
Chr5:5p15.33
not provided
NM_001044.4(SLC6A3):c.258C>T (p.Phe86=) single nucleotide variant Malignant melanoma [RCV000066776] Chr5:1442940 [GRCh38]
Chr5:1443055 [GRCh37]
Chr5:1496055 [NCBI36]
Chr5:5p15.33
not provided
NM_001044.5(SLC6A3):c.1031+1G>A single nucleotide variant Parkinsonism-dystonia, infantile, 1 [RCV000083262] Chr5:1416097 [GRCh38]
Chr5:1416212 [GRCh37]
Chr5:5p15.33
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001044.5(SLC6A3):c.671T>C (p.Leu224Pro) single nucleotide variant Parkinsonism-dystonia, infantile, 1 [RCV000083263] Chr5:1421997 [GRCh38]
Chr5:1422112 [GRCh37]
Chr5:5p15.33
pathogenic
NM_001044.5(SLC6A3):c.1561C>T (p.Arg521Trp) single nucleotide variant Parkinsonism-dystonia, infantile, 1 [RCV000083264] Chr5:1406226 [GRCh38]
Chr5:1406341 [GRCh37]
Chr5:5p15.33
pathogenic
NM_001044.5(SLC6A3):c.1763G>A (p.Arg588Gln) single nucleotide variant Infantile dystonia-parkinsonism [RCV001348145] Chr5:1402926 [GRCh38]
Chr5:1403041 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.1215A>G (p.Ser405=) single nucleotide variant Infantile dystonia-parkinsonism [RCV001521080]|Parkinsonism-dystonia, infantile, 1 [RCV000625455]|not specified [RCV000180550] Chr5:1411297 [GRCh38]
Chr5:1411412 [GRCh37]
Chr5:5p15.33
benign
NM_001044.5(SLC6A3):c.1440C>T (p.Ala480=) single nucleotide variant not provided [RCV000597205] Chr5:1409084 [GRCh38]
Chr5:1409199 [GRCh37]
Chr5:5p15.33
uncertain significance
GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3 copy number gain See cases [RCV000133788] Chr5:22149..33418188 [GRCh38]
Chr5:22149..33418294 [GRCh37]
Chr5:75149..33454051 [NCBI36]
Chr5:5p15.33-13.3
pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-12819999)x1 copy number loss See cases [RCV000133796] Chr5:22149..12819999 [GRCh38]
Chr5:22149..12820111 [GRCh37]
Chr5:75149..12873111 [NCBI36]
Chr5:5p15.33-15.2
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1 copy number loss See cases [RCV000133768] Chr5:22149..25699605 [GRCh38]
Chr5:22149..25699714 [GRCh37]
Chr5:75149..25735471 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1 copy number loss See cases [RCV000134873] Chr5:22149..27788616 [GRCh38]
Chr5:22149..27788723 [GRCh37]
Chr5:75149..27824480 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1 copy number loss See cases [RCV000135668] Chr5:22149..32248010 [GRCh38]
Chr5:22149..32248116 [GRCh37]
Chr5:75149..32283873 [NCBI36]
Chr5:5p15.33-13.3
pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1 copy number loss See cases [RCV000135878] Chr5:49978..30112535 [GRCh38]
Chr5:50093..30112642 [GRCh37]
Chr5:103093..30148399 [NCBI36]
Chr5:5p15.33-13.3
pathogenic
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 copy number gain See cases [RCV000135453] Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1 copy number loss See cases [RCV000136556] Chr5:22149..16584575 [GRCh38]
Chr5:22149..16584684 [GRCh37]
Chr5:75149..16637684 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh38/hg38 5p15.33(chr5:924086-1544344)x3 copy number gain See cases [RCV000135933] Chr5:924086..1544344 [GRCh38]
Chr5:924201..1544459 [GRCh37]
Chr5:977201..1597459 [NCBI36]
Chr5:5p15.33
uncertain significance
GRCh38/hg38 5p15.33(chr5:22149-1429599)x1 copy number loss See cases [RCV000136900] Chr5:22149..1429599 [GRCh38]
Chr5:22149..1429714 [GRCh37]
Chr5:75149..1482714 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1 copy number loss See cases [RCV000137072] Chr5:22149..27485619 [GRCh38]
Chr5:22149..27485726 [GRCh37]
Chr5:75149..27521483 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3 copy number gain See cases [RCV000136943] Chr5:22149..15851376 [GRCh38]
Chr5:22149..15851485 [GRCh37]
Chr5:75149..15904485 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3 copy number gain See cases [RCV000137682] Chr5:22149..28075106 [GRCh38]
Chr5:22149..28075213 [GRCh37]
Chr5:75149..28110970 [NCBI36]
Chr5:5p15.33-14.1
pathogenic|uncertain significance
GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1 copy number loss See cases [RCV000137165] Chr5:22149..28429241 [GRCh38]
Chr5:22149..28429348 [GRCh37]
Chr5:75149..28465105 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1 copy number loss See cases [RCV000138116] Chr5:22149..22775295 [GRCh38]
Chr5:22149..22775404 [GRCh37]
Chr5:75149..22811161 [NCBI36]
Chr5:5p15.33-14.3
pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:22149-6060102)x1 copy number loss See cases [RCV000138215] Chr5:22149..6060102 [GRCh38]
Chr5:22149..6060215 [GRCh37]
Chr5:75149..6113215 [NCBI36]
Chr5:5p15.33-15.32
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1 copy number loss See cases [RCV000138099] Chr5:22149..27187950 [GRCh38]
Chr5:22149..27188057 [GRCh37]
Chr5:75149..27223814 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33(chr5:22149-4260151)x1 copy number loss See cases [RCV000137942] Chr5:22149..4260151 [GRCh38]
Chr5:22149..4260264 [GRCh37]
Chr5:75149..4313264 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-11429258)x1 copy number loss See cases [RCV000137884] Chr5:22149..11429258 [GRCh38]
Chr5:22149..11429370 [GRCh37]
Chr5:75149..11482370 [NCBI36]
Chr5:5p15.33-15.2
pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-11530391)x1 copy number loss See cases [RCV000137915] Chr5:22149..11530391 [GRCh38]
Chr5:22149..11530503 [GRCh37]
Chr5:75149..11583503 [NCBI36]
Chr5:5p15.33-15.2
pathogenic
GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3 copy number gain See cases [RCV000137806] Chr5:22149..23607053 [GRCh38]
Chr5:22149..23607162 [GRCh37]
Chr5:75149..23642919 [NCBI36]
Chr5:5p15.33-14.2
pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1 copy number loss See cases [RCV000138888] Chr5:22149..35831538 [GRCh38]
Chr5:22149..35831640 [GRCh37]
Chr5:75149..35867397 [NCBI36]
Chr5:5p15.33-13.2
pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3
pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1 copy number loss See cases [RCV000138553] Chr5:22149..21217120 [GRCh38]
Chr5:22149..21217229 [GRCh37]
Chr5:75149..21252986 [NCBI36]
Chr5:5p15.33-14.3
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-17788697)x1 copy number loss See cases [RCV000138288] Chr5:22149..17788697 [GRCh38]
Chr5:22149..17788806 [GRCh37]
Chr5:75149..17824563 [NCBI36]
Chr5:5p15.33-15.1
likely benign
GRCh38/hg38 5p15.33(chr5:22149-2323943)x3 copy number gain See cases [RCV000139303] Chr5:22149..2323943 [GRCh38]
Chr5:22149..2324057 [GRCh37]
Chr5:75149..2377057 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33(chr5:22149-3619159) copy number gain See cases [RCV000139908] Chr5:22149..3619159 [GRCh38]
Chr5:22149..3619273 [GRCh37]
Chr5:75149..3672273 [NCBI36]
Chr5:5p15.33
uncertain significance
GRCh38/hg38 5p15.33(chr5:965217-1528677)x3 copy number gain See cases [RCV000139630] Chr5:965217..1528677 [GRCh38]
Chr5:965332..1528792 [GRCh37]
Chr5:1018332..1581792 [NCBI36]
Chr5:5p15.33
likely benign
GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1 copy number loss See cases [RCV000141225] Chr5:22149..28589192 [GRCh38]
Chr5:22149..28589299 [GRCh37]
Chr5:75149..28625056 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:22149-4833626)x1 copy number loss See cases [RCV000141244] Chr5:22149..4833626 [GRCh38]
Chr5:22149..4833739 [GRCh37]
Chr5:75149..4886739 [NCBI36]
Chr5:5p15.33-15.32
pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1 copy number loss See cases [RCV000140964] Chr5:22149..16930016 [GRCh38]
Chr5:22149..16930125 [GRCh37]
Chr5:75149..16983125 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh38/hg38 5p15.33-15.31(chr5:113461-8875933)x1 copy number loss See cases [RCV000141930] Chr5:113461..8875933 [GRCh38]
Chr5:113576..8876045 [GRCh37]
Chr5:166576..8929045 [NCBI36]
Chr5:5p15.33-15.31
pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1 copy number loss See cases [RCV000141844] Chr5:113461..33998289 [GRCh38]
Chr5:113576..33998394 [GRCh37]
Chr5:166576..34034151 [NCBI36]
Chr5:5p15.33-13.2
pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:113461-6243977)x1 copy number loss See cases [RCV000141898] Chr5:113461..6243977 [GRCh38]
Chr5:113576..6244090 [GRCh37]
Chr5:166576..6297090 [NCBI36]
Chr5:5p15.33-15.32
pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:113461-14684362)x1 copy number loss See cases [RCV000142183] Chr5:113461..14684362 [GRCh38]
Chr5:113576..14684471 [GRCh37]
Chr5:166576..14737471 [NCBI36]
Chr5:5p15.33-15.2
pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1 copy number loss See cases [RCV000143022] Chr5:22149..21726360 [GRCh38]
Chr5:22149..21726469 [GRCh37]
Chr5:75149..21762226 [NCBI36]
Chr5:5p15.33-14.3
pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:22149-5059896)x1 copy number loss See cases [RCV000143018] Chr5:22149..5059896 [GRCh38]
Chr5:22149..5060009 [GRCh37]
Chr5:75149..5113009 [NCBI36]
Chr5:5p15.33-15.32
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1 copy number loss See cases [RCV000142934] Chr5:22149..27611163 [GRCh38]
Chr5:22149..27611270 [GRCh37]
Chr5:75149..27647027 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:95128-5834551)x1 copy number loss See cases [RCV000142697] Chr5:95128..5834551 [GRCh38]
Chr5:95243..5834664 [GRCh37]
Chr5:148243..5887664 [NCBI36]
Chr5:5p15.33-15.32
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1 copy number loss See cases [RCV000142645] Chr5:22149..26593891 [GRCh38]
Chr5:22149..26594000 [GRCh37]
Chr5:75149..26629757 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33(chr5:22149-1659135)x3 copy number gain See cases [RCV000142646] Chr5:22149..1659135 [GRCh38]
Chr5:22149..1659250 [GRCh37]
Chr5:75149..1712250 [NCBI36]
Chr5:5p15.33
pathogenic
GRCh38/hg38 5p15.33-15.32(chr5:22149-5102586)x1 copy number loss See cases [RCV000143332] Chr5:22149..5102586 [GRCh38]
Chr5:22149..5102699 [GRCh37]
Chr5:75149..5155699 [NCBI36]
Chr5:5p15.33-15.32
pathogenic
GRCh38/hg38 5p15.33(chr5:1285489-1400393)x3 copy number gain See cases [RCV000143161] Chr5:1285489..1400393 [GRCh38]
Chr5:1285604..1400508 [GRCh37]
Chr5:1338604..1453508 [NCBI36]
Chr5:5p15.33
uncertain significance
GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1 copy number loss See cases [RCV000148250] Chr5:49978..15678451 [GRCh38]
Chr5:50093..15678560 [GRCh37]
Chr5:103093..15731560 [NCBI36]
Chr5:5p15.33-15.1
pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:79146-15509107)x1 copy number loss See cases [RCV000240157] Chr5:79146..15509107 [GRCh37]
Chr5:5p15.33-15.1
pathogenic
t(5;16)(p15.31;q23.1) translocation not provided [RCV000203391] Chr5:1..8180513 [GRCh37]
Chr16:76935310..90354753 [GRCh37]
Chr5:5p15.33-15.31
Chr16:16q23.1-24.3
likely pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-33493797)x1 copy number loss See cases [RCV000449075] Chr5:113576..33493797 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
NM_001044.5(SLC6A3):c.546C>T (p.Asn182=) single nucleotide variant Infantile dystonia-parkinsonism [RCV000857879]|Parkinsonism-dystonia, infantile, 1 [RCV000524904]|not provided [RCV001546699] Chr5:1432571 [GRCh38]
Chr5:1432686 [GRCh37]
Chr5:5p15.33
benign|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 5p15.33-13.3(chr5:25328-30672798)x1 copy number loss See cases [RCV000515550] Chr5:25328..30672798 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-19661628)x3 copy number gain not provided [RCV000234904] Chr5:25328..19661628 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925) copy number loss 5p partial monosomy syndrome [RCV000767709] Chr5:140474..26906925 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3 copy number gain See cases [RCV000240016] Chr5:22149..34041255 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:22149-13362684)x1 copy number loss See cases [RCV000240389] Chr5:22149..13362684 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
NM_001044.5(SLC6A3):c.150G>T (p.Pro50=) single nucleotide variant Infantile dystonia-parkinsonism [RCV000548298] Chr5:1443048 [GRCh38]
Chr5:1443163 [GRCh37]
Chr5:5p15.33
benign
NM_001044.5(SLC6A3):c.1731C>T (p.Ala577=) single nucleotide variant Infantile dystonia-parkinsonism [RCV000549120]|not specified [RCV000282441] Chr5:1402958 [GRCh38]
Chr5:1403073 [GRCh37]
Chr5:5p15.33
benign
NM_001044.5(SLC6A3):c.330G>A (p.Gly110=) single nucleotide variant not provided [RCV000290679] Chr5:1441447 [GRCh38]
Chr5:1441562 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.1676C>T (p.Ala559Val) single nucleotide variant Infantile dystonia-parkinsonism [RCV000525246]|not provided [RCV000336306] Chr5:1403013 [GRCh38]
Chr5:1403128 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.1035C>T (p.Asp345=) single nucleotide variant Infantile dystonia-parkinsonism [RCV000858610]|Parkinsonism-dystonia, infantile, 1 [RCV000532991] Chr5:1414812 [GRCh38]
Chr5:1414927 [GRCh37]
Chr5:5p15.33
benign
NM_001044.5(SLC6A3):c.1515C>T (p.Ser505=) single nucleotide variant Infantile dystonia-parkinsonism [RCV001397024]|not provided [RCV000596665] Chr5:1406272 [GRCh38]
Chr5:1406387 [GRCh37]
Chr5:5p15.33
likely benign|uncertain significance
NM_001044.5(SLC6A3):c.360C>T (p.Leu120=) single nucleotide variant Infantile dystonia-parkinsonism [RCV001394824]|not provided [RCV000553316] Chr5:1441417 [GRCh38]
Chr5:1441532 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1527G>A (p.Gln509=) single nucleotide variant Infantile dystonia-parkinsonism [RCV000528991] Chr5:1406260 [GRCh38]
Chr5:1406375 [GRCh37]
Chr5:5p15.33
benign
NM_001044.5(SLC6A3):c.143C>G (p.Thr48Ser) single nucleotide variant not provided [RCV000592060] Chr5:1443055 [GRCh38]
Chr5:1443170 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.152G>A (p.Arg51Gln) single nucleotide variant Parkinsonism-dystonia, infantile, 1 [RCV000806074] Chr5:1443046 [GRCh38]
Chr5:1443161 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.1156+8C>T single nucleotide variant not provided [RCV000733046] Chr5:1414683 [GRCh38]
Chr5:1414798 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.444C>A (p.Ile148=) single nucleotide variant Infantile dystonia-parkinsonism [RCV001085802]|not provided [RCV000732130] Chr5:1432673 [GRCh38]
Chr5:1432788 [GRCh37]
Chr5:5p15.33
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001044.5(SLC6A3):c.1080C>T (p.Ser360=) single nucleotide variant Infantile dystonia-parkinsonism [RCV001454541]|not provided [RCV000557546] Chr5:1414767 [GRCh38]
Chr5:1414882 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.605C>G (p.Ser202Trp) single nucleotide variant Parkinsonism-dystonia, infantile, 1 [RCV000542036] Chr5:1432512 [GRCh38]
Chr5:1432627 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.1398C>T (p.Asn466=) single nucleotide variant Infantile dystonia-parkinsonism [RCV000558916]|not provided [RCV001529755] Chr5:1409721 [GRCh38]
Chr5:1409836 [GRCh37]
Chr5:5p15.33
benign|likely benign
GRCh37/hg19 5p15.33-15.1(chr5:113576-16854340)x1 copy number loss See cases [RCV000449097] Chr5:113576..16854340 [GRCh37]
Chr5:5p15.33-15.1
pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-30279389)x3 copy number gain See cases [RCV000446077] Chr5:113576..30279389 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:22149-24835567)x1 copy number loss See cases [RCV000447672] Chr5:22149..24835567 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:22149-6112711)x1 copy number loss See cases [RCV000447679] Chr5:22149..6112711 [GRCh37]
Chr5:5p15.33-15.32
pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:113576-34372083)x1 copy number loss See cases [RCV000446974] Chr5:113576..34372083 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:22149-9958240)x1 copy number loss See cases [RCV000447483] Chr5:22149..9958240 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:22149-4641409)x1 copy number loss See cases [RCV000446677] Chr5:22149..4641409 [GRCh37]
Chr5:5p15.33-15.32
pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-17334977)x1 copy number loss See cases [RCV000446645] Chr5:113576..17334977 [GRCh37]
Chr5:5p15.33-15.1
pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:113576-6737134)x1 copy number loss See cases [RCV000446523] Chr5:113576..6737134 [GRCh37]
Chr5:5p15.33-15.31
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-27338567)x1 copy number loss See cases [RCV000446054] Chr5:113576..27338567 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-14238330)x3 copy number gain See cases [RCV000447632] Chr5:113576..14238330 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
GRCh37/hg19 5p15.33(chr5:22149-2965987)x1 copy number loss See cases [RCV000446665] Chr5:22149..2965987 [GRCh37]
Chr5:5p15.33
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-25948451)x1 copy number loss See cases [RCV000447462] Chr5:113576..25948451 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
NM_001044.5(SLC6A3):c.499C>T (p.Leu167Phe) single nucleotide variant Infantile dystonia-parkinsonism [RCV001084900]|Parkinsonism-dystonia, infantile, 1 [RCV000647221]|Tobacco addiction, susceptibility to [RCV000765817]|not provided [RCV000422809] Chr5:1432618 [GRCh38]
Chr5:1432733 [GRCh37]
Chr5:5p15.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 5p15.33-15.31(chr5:1359855-7263257)x1 copy number loss See cases [RCV000445798] Chr5:1359855..7263257 [GRCh37]
Chr5:5p15.33-15.31
likely pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041196)x1 copy number loss See cases [RCV000448019] Chr5:22149..34041196 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-21786246)x1 copy number loss See cases [RCV000448521] Chr5:113576..21786246 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:22149-6500967)x1 copy number loss See cases [RCV000448543] Chr5:22149..6500967 [GRCh37]
Chr5:5p15.33-15.31
pathogenic
GRCh37/hg19 5p15.33(chr5:22149-4163847)x1 copy number loss See cases [RCV000447780] Chr5:22149..4163847 [GRCh37]
Chr5:5p15.33
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-23147737)x1 copy number loss See cases [RCV000448408] Chr5:113576..23147737 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:79146-22152284)x1 copy number loss See cases [RCV000447737] Chr5:79146..22152284 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:149372-7883578)x3 copy number gain See cases [RCV000447969] Chr5:149372..7883578 [GRCh37]
Chr5:5p15.33-15.31
pathogenic
NM_001044.5(SLC6A3):c.253C>T (p.Arg85Trp) single nucleotide variant not provided [RCV000480943] Chr5:1442945 [GRCh38]
Chr5:1443060 [GRCh37]
Chr5:5p15.33
likely pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-25091472)x1 copy number loss See cases [RCV000512066] Chr5:113576..25091472 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-26234903)x1 copy number loss See cases [RCV000510193] Chr5:113576..26234903 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-10163809)x1 copy number loss See cases [RCV000511494] Chr5:113576..10163809 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-15291661)x1 copy number loss See cases [RCV000511513] Chr5:113576..15291661 [GRCh37]
Chr5:5p15.33-15.1
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:113576-5380741)x1 copy number loss See cases [RCV000511088] Chr5:113576..5380741 [GRCh37]
Chr5:5p15.33-15.32
pathogenic
NM_001044.5(SLC6A3):c.60G>A (p.Glu20=) single nucleotide variant Infantile dystonia-parkinsonism [RCV000554641] Chr5:1443138 [GRCh38]
Chr5:1443253 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33-15.2(chr5:113576-10729838)x1 copy number loss See cases [RCV000510912] Chr5:113576..10729838 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-26948599)x1 copy number loss See cases [RCV000510921] Chr5:113576..26948599 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-23047959)x1 copy number loss See cases [RCV000510786] Chr5:113576..23047959 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
NM_001044.5(SLC6A3):c.1137C>T (p.Ile379=) single nucleotide variant Infantile dystonia-parkinsonism [RCV000533768] Chr5:1414710 [GRCh38]
Chr5:1414825 [GRCh37]
Chr5:5p15.33
benign
NM_001044.5(SLC6A3):c.1498+14A>G single nucleotide variant Infantile dystonia-parkinsonism [RCV001513604]|Parkinsonism-dystonia, infantile, 1 [RCV000610704] Chr5:1409012 [GRCh38]
Chr5:1409127 [GRCh37]
Chr5:5p15.33
benign
NM_001044.5(SLC6A3):c.1413C>G (p.Val471=) single nucleotide variant Infantile dystonia-parkinsonism [RCV000535671] Chr5:1409111 [GRCh38]
Chr5:1409226 [GRCh37]
Chr5:5p15.33
benign
NM_001044.5(SLC6A3):c.1087G>A (p.Val363Ile) single nucleotide variant Parkinsonism-dystonia, infantile, 1 [RCV000647216] Chr5:1414760 [GRCh38]
Chr5:1414875 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.1296C>T (p.Thr432=) single nucleotide variant Infantile dystonia-parkinsonism [RCV001419230]|not provided [RCV000647225] Chr5:1409823 [GRCh38]
Chr5:1409938 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.201C>T (p.Ile67=) single nucleotide variant Parkinsonism-dystonia, infantile, 1 [RCV000647226] Chr5:1442997 [GRCh38]
Chr5:1443112 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1644C>T (p.Tyr548=) single nucleotide variant Infantile dystonia-parkinsonism [RCV000647227] Chr5:1403045 [GRCh38]
Chr5:1403160 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.642C>T (p.Ala214=) single nucleotide variant Infantile dystonia-parkinsonism [RCV000647228] Chr5:1432475 [GRCh38]
Chr5:1432590 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.162C>T (p.Pro54=) single nucleotide variant Infantile dystonia-parkinsonism [RCV000857992]|Parkinsonism-dystonia, infantile, 1 [RCV000537027]|not provided [RCV001572080] Chr5:1443036 [GRCh38]
Chr5:1443151 [GRCh37]
Chr5:5p15.33
benign|likely benign|conflicting interpretations of pathogenicity
NM_001044.5(SLC6A3):c.114C>T (p.Asn38=) single nucleotide variant Infantile dystonia-parkinsonism [RCV001521511]|Parkinsonism-dystonia, infantile, 1 [RCV000625457] Chr5:1443084 [GRCh38]
Chr5:1443199 [GRCh37]
Chr5:5p15.33
benign|conflicting interpretations of pathogenicity
NM_001044.5(SLC6A3):c.419-12C>A single nucleotide variant Infantile dystonia-parkinsonism [RCV001513605]|Parkinsonism-dystonia, infantile, 1 [RCV000625456]|not provided [RCV001530756] Chr5:1432710 [GRCh38]
Chr5:1432825 [GRCh37]
Chr5:5p15.33
benign
NM_001044.5(SLC6A3):c.1728G>A (p.Ala576=) single nucleotide variant Infantile dystonia-parkinsonism [RCV000647217] Chr5:1402961 [GRCh38]
Chr5:1403076 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.1155C>T (p.Asp385=) single nucleotide variant Infantile dystonia-parkinsonism [RCV000647218] Chr5:1414692 [GRCh38]
Chr5:1414807 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.605C>T (p.Ser202Leu) single nucleotide variant Parkinsonism-dystonia, infantile, 1 [RCV000647219] Chr5:1432512 [GRCh38]
Chr5:1432627 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.70G>A (p.Val24Met) single nucleotide variant Infantile dystonia-parkinsonism [RCV000647220]|Tobacco addiction, susceptibility to [RCV000765818] Chr5:1443128 [GRCh38]
Chr5:1443243 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.1768-7_1768-6del microsatellite Parkinsonism-dystonia, infantile, 1 [RCV000647222] Chr5:1400992..1400993 [GRCh38]
Chr5:1401107..1401108 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.1248C>T (p.Leu416=) single nucleotide variant Parkinsonism-dystonia, infantile, 1 [RCV000647223] Chr5:1411264 [GRCh38]
Chr5:1411379 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1038G>A (p.Ala346=) single nucleotide variant Parkinsonism-dystonia, infantile, 1 [RCV000647224]|not provided [RCV001200465] Chr5:1414809 [GRCh38]
Chr5:1414924 [GRCh37]
Chr5:5p15.33
likely benign
GRCh37/hg19 5p15.33(chr5:113576-4175855)x1 copy number loss See cases [RCV000512452] Chr5:113576..4175855 [GRCh37]
Chr5:5p15.33
pathogenic
NM_001044.5(SLC6A3):c.170C>T (p.Ala57Val) single nucleotide variant not provided [RCV000594747] Chr5:1443028 [GRCh38]
Chr5:1443143 [GRCh37]
Chr5:5p15.33
uncertain significance
GRCh37/hg19 5p15.33-14.3(chr5:113576-20240392)x3 copy number gain See cases [RCV000512567] Chr5:113576..20240392 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33(chr5:113576-1816055)x1 copy number loss not provided [RCV000682510] Chr5:113576..1816055 [GRCh37]
Chr5:5p15.33
pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:113576-5884399)x1 copy number loss not provided [RCV000682511] Chr5:113576..5884399 [GRCh37]
Chr5:5p15.33-15.32
pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:113576-6125331)x1 copy number loss not provided [RCV000682512] Chr5:113576..6125331 [GRCh37]
Chr5:5p15.33-15.32
pathogenic
GRCh37/hg19 5p15.33-15.31(chr5:113576-7946262)x1 copy number loss not provided [RCV000682513] Chr5:113576..7946262 [GRCh37]
Chr5:5p15.33-15.31
pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-15822225)x1 copy number loss not provided [RCV000682514] Chr5:113576..15822225 [GRCh37]
Chr5:5p15.33-15.1
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-19167699)x1 copy number loss not provided [RCV000682515] Chr5:113576..19167699 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3 copy number gain not provided [RCV000682516] Chr5:113576..35739404 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh37/hg19 5p15.33(chr5:113576-1708530)x1 copy number loss not provided [RCV000682509] Chr5:113576..1708530 [GRCh37]
Chr5:5p15.33
pathogenic
NM_001044.5(SLC6A3):c.215C>T (p.Ser72Phe) single nucleotide variant Parkinsonism-dystonia, infantile, 1 [RCV000693694] Chr5:1442983 [GRCh38]
Chr5:1443098 [GRCh37]
Chr5:5p15.33
uncertain significance
NC_000005.9:g.(?_1394830)_(1394893_?)dup duplication Parkinsonism-dystonia, infantile, 1 [RCV000707982] Chr5:1394715..1394778 [GRCh38]
Chr5:1394830..1394893 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.1857G>C (p.Lys619Asn) single nucleotide variant Parkinsonism-dystonia, infantile, 1 [RCV000702401] Chr5:1394741 [GRCh38]
Chr5:1394856 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.1838C>T (p.Thr613Met) single nucleotide variant Parkinsonism-dystonia, infantile, 1 [RCV000695415] Chr5:1400916 [GRCh38]
Chr5:1401031 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.77C>T (p.Pro26Leu) single nucleotide variant Infantile dystonia-parkinsonism [RCV000706014] Chr5:1443121 [GRCh38]
Chr5:1443236 [GRCh37]
Chr5:5p15.33
likely benign|uncertain significance
NM_001044.5(SLC6A3):c.1805A>G (p.Glu602Gly) single nucleotide variant not provided [RCV001574897] Chr5:1400949 [GRCh38]
Chr5:1401064 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.1839+185G>A single nucleotide variant not provided [RCV001575203] Chr5:1400730 [GRCh38]
Chr5:1400845 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.-45-101G>A single nucleotide variant not provided [RCV001547056] Chr5:1443343 [GRCh38]
Chr5:1443458 [GRCh37]
Chr5:5p15.33
likely benign
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-18662625)x1 copy number loss not provided [RCV000744320] Chr5:25328..18662625 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-18698028)x3 copy number gain not provided [RCV000744321] Chr5:25328..18698028 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:25328-31343671)x1 copy number loss not provided [RCV000744322] Chr5:25328..31343671 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.33(chr5:1420801-1423905)x1 copy number loss not provided [RCV000744357] Chr5:1420801..1423905 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33(chr5:1420801-1446719)x1 copy number loss not provided [RCV000744358] Chr5:1420801..1446719 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33(chr5:1422602-1423905)x1 copy number loss not provided [RCV000744359] Chr5:1422602..1423905 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33(chr5:1422602-1445601)x1 copy number loss not provided [RCV000744360] Chr5:1422602..1445601 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33(chr5:1422602-1446719)x1 copy number loss not provided [RCV000744361] Chr5:1422602..1446719 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33(chr5:1422654-1423905)x1 copy number loss not provided [RCV000744362] Chr5:1422654..1423905 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33(chr5:1422654-1445601)x1 copy number loss not provided [RCV000744363] Chr5:1422654..1445601 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33(chr5:1422654-1446719)x1 copy number loss not provided [RCV000744364] Chr5:1422654..1446719 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33(chr5:1422654-1468287)x1 copy number loss not provided [RCV000744365] Chr5:1422654..1468287 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33(chr5:1422811-1446548)x1 copy number loss not provided [RCV000744366] Chr5:1422811..1446548 [GRCh37]
Chr5:5p15.33
benign
GRCh37/hg19 5p15.33(chr5:1445379-1446719)x1 copy number loss not provided [RCV000744367] Chr5:1445379..1446719 [GRCh37]
Chr5:5p15.33
benign
NM_001044.5(SLC6A3):c.792+7C>T single nucleotide variant Infantile dystonia-parkinsonism [RCV000861662] Chr5:1421869 [GRCh38]
Chr5:1421984 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1139_1150del (p.Gly380_Lys384delinsGlu) deletion Dysphagia [RCV000853400] Chr5:1414697..1414708 [GRCh38]
Chr5:1414812..1414823 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.1840-68_1840-49del deletion not provided [RCV001566711] Chr5:1394807..1394826 [GRCh38]
Chr5:1394922..1394941 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1156+299T>C single nucleotide variant not provided [RCV001574711] Chr5:1414392 [GRCh38]
Chr5:1414507 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1692C>T (p.Ile564=) single nucleotide variant Infantile dystonia-parkinsonism [RCV000861018]|not provided [RCV001570789] Chr5:1402997 [GRCh38]
Chr5:1403112 [GRCh37]
Chr5:5p15.33
benign|likely benign
GRCh37/hg19 5p15.33(chr5:52186-4163906)x1 copy number loss not provided [RCV000762763] Chr5:52186..4163906 [GRCh37]
Chr5:5p15.33
likely pathogenic
NM_001044.5(SLC6A3):c.653+39C>A single nucleotide variant not provided [RCV001548102] Chr5:1432425 [GRCh38]
Chr5:1432540 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.969C>T (p.Gly323=) single nucleotide variant Infantile dystonia-parkinsonism [RCV000884116] Chr5:1416160 [GRCh38]
Chr5:1416275 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.495C>T (p.His165=) single nucleotide variant Infantile dystonia-parkinsonism [RCV000865487] Chr5:1432622 [GRCh38]
Chr5:1432737 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.606G>A (p.Ser202=) single nucleotide variant not provided [RCV000867012] Chr5:1432511 [GRCh38]
Chr5:1432626 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1332C>T (p.His444=) single nucleotide variant not provided [RCV000936831] Chr5:1409787 [GRCh38]
Chr5:1409902 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1335T>G (p.Arg445=) single nucleotide variant Infantile dystonia-parkinsonism [RCV000871510] Chr5:1409784 [GRCh38]
Chr5:1409899 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.450G>A (p.Leu150=) single nucleotide variant Infantile dystonia-parkinsonism [RCV001433537]|not provided [RCV000865933] Chr5:1432667 [GRCh38]
Chr5:1432782 [GRCh37]
Chr5:5p15.33
likely benign
GRCh37/hg19 5p15.33-14.2(chr5:113576-23364376)x1 copy number loss not provided [RCV001005642] Chr5:113576..23364376 [GRCh37]
Chr5:5p15.33-14.2
pathogenic
NM_001044.5(SLC6A3):c.178C>T (p.Arg60Trp) single nucleotide variant Parkinsonism-dystonia, infantile, 1 [RCV000995647] Chr5:1443020 [GRCh38]
Chr5:1443135 [GRCh37]
Chr5:5p15.33
likely pathogenic
NM_001044.5(SLC6A3):c.418+9C>T single nucleotide variant Infantile dystonia-parkinsonism [RCV001496569]|not provided [RCV000861377] Chr5:1441350 [GRCh38]
Chr5:1441465 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1200G>A (p.Thr400=) single nucleotide variant Infantile dystonia-parkinsonism [RCV001442580]|not provided [RCV000876307] Chr5:1411312 [GRCh38]
Chr5:1411427 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1470C>T (p.Ile490=) single nucleotide variant Infantile dystonia-parkinsonism [RCV000861851] Chr5:1409054 [GRCh38]
Chr5:1409169 [GRCh37]
Chr5:5p15.33
benign
NM_001044.5(SLC6A3):c.216C>T (p.Ser72=) single nucleotide variant not provided [RCV000945812] Chr5:1442982 [GRCh38]
Chr5:1443097 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1143C>T (p.Asp381=) single nucleotide variant Infantile dystonia-parkinsonism [RCV000863368] Chr5:1414704 [GRCh38]
Chr5:1414819 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1089C>T (p.Val363=) single nucleotide variant Infantile dystonia-parkinsonism [RCV000861937] Chr5:1414758 [GRCh38]
Chr5:1414873 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.456C>T (p.Val152=) single nucleotide variant Infantile dystonia-parkinsonism [RCV000862146] Chr5:1432661 [GRCh38]
Chr5:1432776 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1356C>T (p.Ile452=) single nucleotide variant Infantile dystonia-parkinsonism [RCV000862212] Chr5:1409763 [GRCh38]
Chr5:1409878 [GRCh37]
Chr5:5p15.33
benign
NM_001044.5(SLC6A3):c.822C>T (p.Tyr274=) single nucleotide variant Infantile dystonia-parkinsonism [RCV000873365] Chr5:1420674 [GRCh38]
Chr5:1420789 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.615C>T (p.Asn205=) single nucleotide variant Infantile dystonia-parkinsonism [RCV001489986]|not provided [RCV000863597] Chr5:1432502 [GRCh38]
Chr5:1432617 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1747C>T (p.Leu583=) single nucleotide variant not provided [RCV000921833] Chr5:1402942 [GRCh38]
Chr5:1403057 [GRCh37]
Chr5:5p15.33
likely benign
GRCh37/hg19 5p15.33-15.31(chr5:140474-9792158) copy number loss 5p partial monosomy syndrome [RCV000767710] Chr5:140474..9792158 [GRCh37]
Chr5:5p15.33-15.31
pathogenic
GRCh37/hg19 5p15.33(chr5:113576-2485820)x1 copy number loss not provided [RCV001005640] Chr5:113576..2485820 [GRCh37]
Chr5:5p15.33
likely pathogenic
NM_001044.5(SLC6A3):c.1216G>A (p.Ala406Thr) single nucleotide variant Parkinsonism-dystonia, infantile, 1 [RCV000820864] Chr5:1411296 [GRCh38]
Chr5:1411411 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.285C>T (p.Gly95=) single nucleotide variant Parkinsonism-dystonia, infantile, 1 [RCV000797681] Chr5:1442913 [GRCh38]
Chr5:1443028 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.376G>C (p.Glu126Gln) single nucleotide variant Parkinsonism-dystonia, infantile, 1 [RCV000793408] Chr5:1441401 [GRCh38]
Chr5:1441516 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.1641C>G (p.His547Gln) single nucleotide variant Parkinsonism-dystonia, infantile, 1 [RCV000797885] Chr5:1403048 [GRCh38]
Chr5:1403163 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.1067C>T (p.Thr356Met) single nucleotide variant Infantile dystonia-parkinsonism [RCV001221916]|Parkinsonism-dystonia, infantile, 1 [RCV000784921] Chr5:1414780 [GRCh38]
Chr5:1414895 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.1410C>T (p.Tyr470=) single nucleotide variant Infantile dystonia-parkinsonism [RCV000871050] Chr5:1409114 [GRCh38]
Chr5:1409229 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.34T>C (p.Ser12Pro) single nucleotide variant Parkinsonism-dystonia, infantile, 1 [RCV000799084] Chr5:1443164 [GRCh38]
Chr5:1443279 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.1118A>G (p.Gln373Arg) single nucleotide variant Infantile dystonia-parkinsonism [RCV000795321] Chr5:1414729 [GRCh38]
Chr5:1414844 [GRCh37]
Chr5:5p15.33
likely benign|uncertain significance
NM_001044.5(SLC6A3):c.448C>G (p.Leu150Val) single nucleotide variant Parkinsonism-dystonia, infantile, 1 [RCV000809358] Chr5:1432669 [GRCh38]
Chr5:1432784 [GRCh37]
Chr5:5p15.33
uncertain significance
GRCh37/hg19 5p15.33-15.2(chr5:113576-11767720)x1 copy number loss not provided [RCV001005644] Chr5:113576..11767720 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
NM_001044.5(SLC6A3):c.661G>A (p.Val221Met) single nucleotide variant Parkinsonism-dystonia, infantile, 1 [RCV000805278] Chr5:1422007 [GRCh38]
Chr5:1422122 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.78G>A (p.Pro26=) single nucleotide variant Infantile dystonia-parkinsonism [RCV000862550] Chr5:1443120 [GRCh38]
Chr5:1443235 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.710G>A (p.Arg237Gln) single nucleotide variant not provided [RCV000862932] Chr5:1421958 [GRCh38]
Chr5:1422073 [GRCh37]
Chr5:5p15.33
likely benign
GRCh37/hg19 5p15.33-15.32(chr5:113576-5657333)x1 copy number loss not provided [RCV001005645] Chr5:113576..5657333 [GRCh37]
Chr5:5p15.33-15.32
pathogenic
GRCh37/hg19 5p15.33-15.32(chr5:113576-5194484)x1 copy number loss not provided [RCV001005646] Chr5:113576..5194484 [GRCh37]
Chr5:5p15.33-15.32
pathogenic
GRCh37/hg19 5p15.33(chr5:113576-4325585)x1 copy number loss not provided [RCV001005641] Chr5:113576..4325585 [GRCh37]
Chr5:5p15.33
pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:71904-22078969) copy number loss 5p partial monosomy syndrome [RCV001195139] Chr5:71904..22078969 [GRCh37]
Chr5:5p15.33-14.3
pathogenic
NM_001044.5(SLC6A3):c.1736A>G (p.Lys579Arg) single nucleotide variant Infantile dystonia-parkinsonism [RCV001205789] Chr5:1402953 [GRCh38]
Chr5:1403068 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.1648G>A (p.Ala550Thr) single nucleotide variant Infantile dystonia-parkinsonism [RCV001237376] Chr5:1403041 [GRCh38]
Chr5:1403156 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.1663G>A (p.Asp555Asn) single nucleotide variant Infantile dystonia-parkinsonism [RCV001209945] Chr5:1403026 [GRCh38]
Chr5:1403141 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.1398+5G>A single nucleotide variant Parkinsonism-dystonia, infantile, 1 [RCV001198035] Chr5:1409716 [GRCh38]
Chr5:1409831 [GRCh37]
Chr5:5p15.33
likely pathogenic
NM_001044.5(SLC6A3):c.997T>G (p.Ser333Ala) single nucleotide variant Infantile dystonia-parkinsonism [RCV001228405] Chr5:1416132 [GRCh38]
Chr5:1416247 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.656G>A (p.Arg219His) single nucleotide variant Parkinsonism-dystonia, infantile, 1 [RCV001249652] Chr5:1422012 [GRCh38]
Chr5:1422127 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.991G>C (p.Ala331Pro) single nucleotide variant Parkinsonism-dystonia, infantile, 1 [RCV001249653] Chr5:1416138 [GRCh38]
Chr5:1416253 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.654-75C>T single nucleotide variant not provided [RCV001549698] Chr5:1422089 [GRCh38]
Chr5:1422204 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1156+238C>A single nucleotide variant not provided [RCV001550525] Chr5:1414453 [GRCh38]
Chr5:1414568 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1839+26TC[2] microsatellite not provided [RCV001576140] Chr5:1400884..1400885 [GRCh38]
Chr5:1400999..1401000 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1032-242G>A single nucleotide variant not provided [RCV001555062] Chr5:1415057 [GRCh38]
Chr5:1415172 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1156+270G>T single nucleotide variant not provided [RCV001560615] Chr5:1414421 [GRCh38]
Chr5:1414536 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.419-109T>G single nucleotide variant not provided [RCV001550286] Chr5:1432807 [GRCh38]
Chr5:1432922 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.927+110G>C single nucleotide variant not provided [RCV001556654] Chr5:1420459 [GRCh38]
Chr5:1420574 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1767+280C>G single nucleotide variant not provided [RCV001566060] Chr5:1402642 [GRCh38]
Chr5:1402757 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.792+223C>A single nucleotide variant not provided [RCV001552834] Chr5:1421653 [GRCh38]
Chr5:1421768 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1839+9G>A single nucleotide variant Infantile dystonia-parkinsonism [RCV000862211] Chr5:1400906 [GRCh38]
Chr5:1401021 [GRCh37]
Chr5:5p15.33
benign
NM_001044.5(SLC6A3):c.792+10G>A single nucleotide variant Infantile dystonia-parkinsonism [RCV001434858]|not provided [RCV000862397] Chr5:1421866 [GRCh38]
Chr5:1421981 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1791C>T (p.Pro597=) single nucleotide variant Infantile dystonia-parkinsonism [RCV001488878]|not provided [RCV000908418] Chr5:1400963 [GRCh38]
Chr5:1401078 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.498T>C (p.Tyr166=) single nucleotide variant not provided [RCV000866795] Chr5:1432619 [GRCh38]
Chr5:1432734 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1498+10G>A single nucleotide variant Infantile dystonia-parkinsonism [RCV000863642] Chr5:1409016 [GRCh38]
Chr5:1409131 [GRCh37]
Chr5:5p15.33
benign
NM_001044.5(SLC6A3):c.1840-7_1840-3dup duplication not provided [RCV000863064] Chr5:1394760..1394761 [GRCh38]
Chr5:1394875..1394876 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1498+9G>A single nucleotide variant not provided [RCV000876252] Chr5:1409017 [GRCh38]
Chr5:1409132 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1662C>T (p.Pro554=) single nucleotide variant not provided [RCV000864748] Chr5:1403027 [GRCh38]
Chr5:1403142 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1086C>T (p.Phe362=) single nucleotide variant Infantile dystonia-parkinsonism [RCV000861772] Chr5:1414761 [GRCh38]
Chr5:1414876 [GRCh37]
Chr5:5p15.33
benign
NM_001044.5(SLC6A3):c.1603G>A (p.Val535Met) single nucleotide variant Infantile dystonia-parkinsonism [RCV001056011] Chr5:1403086 [GRCh38]
Chr5:1403201 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.1766A>T (p.Glu589Val) single nucleotide variant Infantile dystonia-parkinsonism [RCV001227736] Chr5:1402923 [GRCh38]
Chr5:1403038 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.366G>C (p.Gln122His) single nucleotide variant Infantile dystonia-parkinsonism [RCV001208954] Chr5:1441411 [GRCh38]
Chr5:1441526 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.892del (p.Tyr297_Leu298insTer) deletion Infantile dystonia-parkinsonism [RCV001208955] Chr5:1420604 [GRCh38]
Chr5:1420719 [GRCh37]
Chr5:5p15.33
pathogenic
NM_001044.5(SLC6A3):c.1544G>A (p.Arg515Gln) single nucleotide variant Infantile dystonia-parkinsonism [RCV001241600] Chr5:1406243 [GRCh38]
Chr5:1406358 [GRCh37]
Chr5:5p15.33
uncertain significance
GRCh37/hg19 5p15.33-15.2(chr5:113576-14738180)x1 copy number loss not provided [RCV001005643] Chr5:113576..14738180 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
NM_001044.5(SLC6A3):c.1050C>T (p.Thr350=) single nucleotide variant not provided [RCV000933581] Chr5:1414797 [GRCh38]
Chr5:1414912 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1390G>A (p.Val464Ile) single nucleotide variant Infantile dystonia-parkinsonism [RCV001513093]|not provided [RCV000998352] Chr5:1409729 [GRCh38]
Chr5:1409844 [GRCh37]
Chr5:5p15.33
benign|uncertain significance
NM_001044.5(SLC6A3):c.*190C>T single nucleotide variant not provided [RCV001561704] Chr5:1394545 [GRCh38]
Chr5:1394660 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1156+276C>A single nucleotide variant not provided [RCV001557456] Chr5:1414415 [GRCh38]
Chr5:1414530 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.419-260A>G single nucleotide variant not provided [RCV001563157] Chr5:1432958 [GRCh38]
Chr5:1433073 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1156+229C>T single nucleotide variant not provided [RCV001563453] Chr5:1414462 [GRCh38]
Chr5:1414577 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1032-111C>T single nucleotide variant not provided [RCV001558853] Chr5:1414926 [GRCh38]
Chr5:1415041 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1499-239C>T single nucleotide variant not provided [RCV001568774] Chr5:1406527 [GRCh38]
Chr5:1406642 [GRCh37]
Chr5:5p15.33
likely benign
GRCh37/hg19 5p15.33(chr5:944046-1541755)x3 copy number gain not provided [RCV001005647] Chr5:944046..1541755 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.1639dup (p.His547fs) duplication not provided [RCV001008413] Chr5:1403049..1403050 [GRCh38]
Chr5:1403164..1403165 [GRCh37]
Chr5:5p15.33
likely pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:1322680-10762544)x1 copy number loss not provided [RCV001005649] Chr5:1322680..10762544 [GRCh37]
Chr5:5p15.33-15.2
pathogenic
NM_001044.5(SLC6A3):c.33G>C (p.Met11Ile) single nucleotide variant Infantile dystonia-parkinsonism [RCV001036884] Chr5:1443165 [GRCh38]
Chr5:1443280 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.1499-185C>T single nucleotide variant not provided [RCV001567666] Chr5:1406473 [GRCh38]
Chr5:1406588 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.653+5G>A single nucleotide variant Infantile dystonia-parkinsonism [RCV001048689] Chr5:1432459 [GRCh38]
Chr5:1432574 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.911G>A (p.Arg304Gln) single nucleotide variant Infantile dystonia-parkinsonism [RCV001051317] Chr5:1420585 [GRCh38]
Chr5:1420700 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.1269C>T (p.Ala423=) single nucleotide variant Infantile dystonia-parkinsonism [RCV001070261] Chr5:1411243 [GRCh38]
Chr5:1411358 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.927+96G>C single nucleotide variant not provided [RCV001538239] Chr5:1420473 [GRCh38]
Chr5:1420588 [GRCh37]
Chr5:5p15.33
benign
NM_001044.5(SLC6A3):c.1031+71G>T single nucleotide variant Parkinsonism-dystonia, infantile, 1 [RCV001544213] Chr5:1416027 [GRCh38]
Chr5:1416142 [GRCh37]
Chr5:5p15.33
benign
NM_001044.5(SLC6A3):c.286+295C>G single nucleotide variant not provided [RCV001536836] Chr5:1442617 [GRCh38]
Chr5:1442732 [GRCh37]
Chr5:5p15.33
benign
NM_001044.5(SLC6A3):c.1399-262G>A single nucleotide variant not provided [RCV001546997] Chr5:1409387 [GRCh38]
Chr5:1409502 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1269+102T>G single nucleotide variant not provided [RCV001537453] Chr5:1411141 [GRCh38]
Chr5:1411256 [GRCh37]
Chr5:5p15.33
benign
NM_001044.5(SLC6A3):c.1267G>A (p.Ala423Thr) single nucleotide variant Infantile dystonia-parkinsonism [RCV001058580] Chr5:1411245 [GRCh38]
Chr5:1411360 [GRCh37]
Chr5:5p15.33
uncertain significance
GRCh37/hg19 5p15.33(chr5:113576-4305172)x1 copy number loss not provided [RCV001258846] Chr5:113576..4305172 [GRCh37]
Chr5:5p15.33
pathogenic
NM_001044.5(SLC6A3):c.1817G>A (p.Arg606Lys) single nucleotide variant Infantile dystonia-parkinsonism [RCV001307368] Chr5:1400937 [GRCh38]
Chr5:1401052 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.418G>C (p.Gly140Arg) single nucleotide variant Infantile dystonia-parkinsonism [RCV001340044] Chr5:1441359 [GRCh38]
Chr5:1441474 [GRCh37]
Chr5:5p15.33
uncertain significance
GRCh37/hg19 5p15.33-13.3(chr5:22149-29048823)x1 copy number loss See cases [RCV001310287] Chr5:22149..29048823 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
NC_000005.9:g.(?_1394830)_(1394893_?)dup duplication Infantile dystonia-parkinsonism [RCV001319101]|Parkinsonism-dystonia, infantile, 1 [RCV000707982] Chr5:1394830..1394893 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.1107G>A (p.Gly369=) single nucleotide variant Infantile dystonia-parkinsonism [RCV001396981] Chr5:1414740 [GRCh38]
Chr5:1414855 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.287-16C>A single nucleotide variant Infantile dystonia-parkinsonism [RCV001294258] Chr5:1441506 [GRCh38]
Chr5:1441621 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.*314TGCTCCC[1] microsatellite not provided [RCV001538554] Chr5:1394408..1394414 [GRCh38]
Chr5:1394523..1394529 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1829G>A (p.Arg610His) single nucleotide variant Infantile dystonia-parkinsonism [RCV001297821] Chr5:1400925 [GRCh38]
Chr5:1401040 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.898G>A (p.Val300Ile) single nucleotide variant Infantile dystonia-parkinsonism [RCV001322049] Chr5:1420598 [GRCh38]
Chr5:1420713 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.151C>T (p.Arg51Trp) single nucleotide variant Infantile dystonia-parkinsonism [RCV001346076] Chr5:1443047 [GRCh38]
Chr5:1443162 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.625G>A (p.Gly209Arg) single nucleotide variant Infantile dystonia-parkinsonism [RCV001365869] Chr5:1432492 [GRCh38]
Chr5:1432607 [GRCh37]
Chr5:5p15.33
uncertain significance
NM_001044.5(SLC6A3):c.653+13C>T single nucleotide variant Infantile dystonia-parkinsonism [RCV001518780]|not provided [RCV001546626] Chr5:1432451 [GRCh38]
Chr5:1432566 [GRCh37]
Chr5:5p15.33
benign|likely benign
NM_001044.5(SLC6A3):c.1839+8C>T single nucleotide variant Infantile dystonia-parkinsonism [RCV001478513] Chr5:1400907 [GRCh38]
Chr5:1401022 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1768-7C>T single nucleotide variant Infantile dystonia-parkinsonism [RCV001404871] Chr5:1400993 [GRCh38]
Chr5:1401108 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1068G>A (p.Thr356=) single nucleotide variant Infantile dystonia-parkinsonism [RCV001488314] Chr5:1414779 [GRCh38]
Chr5:1414894 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1359C>T (p.Val453=) single nucleotide variant Infantile dystonia-parkinsonism [RCV001475454] Chr5:1409760 [GRCh38]
Chr5:1409875 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.286+20C>G single nucleotide variant Infantile dystonia-parkinsonism [RCV001521081] Chr5:1442892 [GRCh38]
Chr5:1443007 [GRCh37]
Chr5:5p15.33
benign
NM_001044.5(SLC6A3):c.1479C>T (p.Ile493=) single nucleotide variant Infantile dystonia-parkinsonism [RCV001437146] Chr5:1409045 [GRCh38]
Chr5:1409160 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.471C>T (p.Asn157=) single nucleotide variant Infantile dystonia-parkinsonism [RCV001504439] Chr5:1432646 [GRCh38]
Chr5:1432761 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1270-21G>A single nucleotide variant not provided [RCV001537227] Chr5:1409870 [GRCh38]
Chr5:1409985 [GRCh37]
Chr5:5p15.33
benign
NM_001044.5(SLC6A3):c.57G>A (p.Lys19=) single nucleotide variant Infantile dystonia-parkinsonism [RCV001441832] Chr5:1443141 [GRCh38]
Chr5:1443256 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.48C>A (p.Ala16=) single nucleotide variant Infantile dystonia-parkinsonism [RCV001405437] Chr5:1443150 [GRCh38]
Chr5:1443265 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1156+200_1156+237del deletion not provided [RCV001534358] Chr5:1414454..1414491 [GRCh38]
Chr5:1414569..1414606 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.444C>T (p.Ile148=) single nucleotide variant Infantile dystonia-parkinsonism [RCV001445560] Chr5:1432673 [GRCh38]
Chr5:1432788 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1677G>A (p.Ala559=) single nucleotide variant Infantile dystonia-parkinsonism [RCV001445643] Chr5:1403012 [GRCh38]
Chr5:1403127 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.732G>C (p.Leu244=) single nucleotide variant Infantile dystonia-parkinsonism [RCV001429974] Chr5:1421936 [GRCh38]
Chr5:1422051 [GRCh37]
Chr5:5p15.33
likely benign
GRCh37/hg19 5p15.33(chr5:13200-4012072)x1 copy number loss not provided [RCV001537929] Chr5:13200..4012072 [GRCh37]
Chr5:5p15.33
pathogenic
NM_001044.5(SLC6A3):c.384C>T (p.Ala128=) single nucleotide variant Infantile dystonia-parkinsonism [RCV001457679] Chr5:1441393 [GRCh38]
Chr5:1441508 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.960C>T (p.Phe320=) single nucleotide variant Infantile dystonia-parkinsonism [RCV001504965] Chr5:1416169 [GRCh38]
Chr5:1416284 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.385G>A (p.Ala129Thr) single nucleotide variant Infantile dystonia-parkinsonism [RCV001436213] Chr5:1441392 [GRCh38]
Chr5:1441507 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.915C>A (p.Leu305=) single nucleotide variant Infantile dystonia-parkinsonism [RCV001457106] Chr5:1420581 [GRCh38]
Chr5:1420696 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1110C>T (p.Tyr370=) single nucleotide variant Infantile dystonia-parkinsonism [RCV001491351] Chr5:1414737 [GRCh38]
Chr5:1414852 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.1305C>T (p.Ile435=) single nucleotide variant Infantile dystonia-parkinsonism [RCV001498439] Chr5:1409814 [GRCh38]
Chr5:1409929 [GRCh37]
Chr5:5p15.33
likely benign
NM_001044.5(SLC6A3):c.375G>A (p.Arg125=) single nucleotide variant Infantile dystonia-parkinsonism [RCV001500607] Chr5:1441402 [GRCh38]
Chr5:1441517 [GRCh37]
Chr5:5p15.33
likely benign
NC_000005.9:g.(?_1253823)_(1448148_?)del deletion Infantile dystonia-parkinsonism [RCV001384881] Chr5:1253823..1448148 [GRCh37]
Chr5:5p15.33
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11049 AgrOrtholog
COSMIC SLC6A3 COSMIC
Ensembl Genes ENSG00000142319 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000276996 UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000270349 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000479597 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000270349 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000621716 UniProtKB/Swiss-Prot
GTEx ENSG00000142319 GTEx
  ENSG00000276996 GTEx
HGNC ID HGNC:11049 ENTREZGENE
Human Proteome Map SLC6A3 Human Proteome Map
InterPro Na/ntran_symport UniProtKB/Swiss-Prot
  Na/ntran_symport_dopamine UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SNS_sf UniProtKB/Swiss-Prot
KEGG Report hsa:6531 UniProtKB/Swiss-Prot
NCBI Gene 6531 ENTREZGENE
OMIM 126455 OMIM
  188890 OMIM
  613135 OMIM
PANTHER PTHR11616 UniProtKB/Swiss-Prot
Pfam SNF UniProtKB/Swiss-Prot
PharmGKB PA311 PharmGKB, RGD
PRINTS DOPTRANSPORT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NANEUSMPORT UniProtKB/Swiss-Prot
PROSITE NA_NEUROTRAN_SYMP_1 UniProtKB/Swiss-Prot
  NA_NEUROTRAN_SYMP_2 UniProtKB/Swiss-Prot
  NA_NEUROTRAN_SYMP_3 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF161070 UniProtKB/Swiss-Prot
UniProt Q01959 ENTREZGENE
  Q9Y610_HUMAN UniProtKB/TrEMBL
  SC6A3_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A2RUN4 UniProtKB/Swiss-Prot
  Q14996 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-08 SLC6A3  solute carrier family 6 member 3    solute carrier family 6 (neurotransmitter transporter), member 3  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC6A3  solute carrier family 6 (neurotransmitter transporter), member 3    solute carrier family 6 (neurotransmitter transporter, dopamine), member 3  Symbol and/or name change 5135510 APPROVED