ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) - Rat Genome Database

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Gene: ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) Homo sapiens
Analyze
Symbol: ATP1A3
Name: ATPase Na+/K+ transporting subunit alpha 3
RGD ID: 732644
HGNC Page HGNC
Description: Exhibits active transmembrane transporter activity; amyloid-beta binding activity; and chaperone binding activity. Involved in cellular monovalent inorganic cation homeostasis; inorganic cation transmembrane transport; and neuron projection maintenance. Localizes to several cellular components, including Golgi apparatus; neuronal cell body; and sodium:potassium-exchanging ATPase complex. Implicated in alternating hemiplegia of childhood; bipolar disorder; dystonia 12; and epilepsy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AHC2; ATP1A1; ATPase, Na+/K+ transporting, alpha 3 polypeptide; CAPOS; dystonia 12; DYT12; MGC13276; Na(+)/K(+) ATPase alpha(III) subunit; Na(+)/K(+) ATPase alpha-3 subunit; Na+, K+ activated adenosine triphosphatase alpha subunit; Na+/K+ ATPase 3; RDP; sodium pump 3; sodium pump subunit alpha-3; sodium-potassium ATPase catalytic subunit alpha-3; sodium-potassium-ATPase, alpha 3 polypeptide; sodium/potassium-transporting ATPase alpha-3 chain; sodium/potassium-transporting ATPase subunit alpha-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 Ensembl1941,966,582 - 41,997,497 (-)EnsemblGRCh38hg38GRCh38
GRCh381941,966,582 - 41,994,230 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371942,470,734 - 42,498,382 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361947,162,574 - 47,190,222 (-)NCBINCBI36hg18NCBI36
Build 341947,162,575 - 47,190,222NCBI
Celera1939,270,362 - 39,298,001 (-)NCBI
Cytogenetic Map19q13.2NCBI
HuRef1938,902,456 - 38,930,242 (-)NCBIHuRef
CHM1_11942,472,364 - 42,500,045 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
acebutolol pharmacodynamics pathway  (EXP)
adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway  (EXP)
aldosterone signaling pathway  (IEA)
alfentanil pharmacodynamics pathway  (EXP)
amiloride pharmacodynamics pathway  (EXP)
amiodarone pharmacodynamics pathway  (EXP)
amlodipine pharmacodynamics pathway  (EXP)
atenolol pharmacodynamics pathway  (EXP)
bendroflumethiazide pharmacodynamics pathway  (EXP)
betaxolol pharmacodynamics pathway  (EXP)
bile acid transport pathway  (IEA)
bisoprolol pharmacodynamics pathway  (EXP)
bumetanide pharmacodynamics pathway  (EXP)
bupivacaine pharmacodynamics pathway  (EXP)
bupranolol drug pathway  (EXP)
bupranolol pharmacodynamics pathway  (EXP)
buprenorphine pharmacodynamics pathway  (EXP)
carvedilol pharmacodynamics pathway  (EXP)
chloroprocaine pharmacodynamics pathway  (EXP)
chlorothiazide pharmacodynamics pathway  (EXP)
chlorthalidone pharmacodynamics pathway  (EXP)
citalopram pharmacodynamics pathway  (EXP)
cocaine pharmacodynamics pathway  (EXP)
codeine and morphine pharmacodynamics pathway  (EXP)
cystinuria pathway  (EXP)
desipramine pharmacodynamics pathway  (EXP)
diltiazem pharmacodynamics pathway  (EXP)
diphenoxylate pharmacodynamics pathway  (EXP)
disopyramide pharmacodynamics pathway  (EXP)
dobutamine pharmacodynamics pathway  (EXP)
eplerenone pharmacodynamics pathway  (EXP)
escitalopram pharmacodynamics pathway  (EXP)
esmolol pharmacodynamics pathway  (EXP)
etacrynic acid pharmacodynamics pathway  (EXP)
ethylmorphine pharmacodynamics pathway  (EXP)
fentanyl pharmacodynamics pathway  (EXP)
flecainde pharmacodynamics pathway  (EXP)
fluoxetine pharmacodynamics pathway  (EXP)
fosphenytoin pharmacodynamics pathway  (EXP)
furosemide pharmacodynamics pathway  (EXP)
Hartnup disease pathway  (EXP)
heroin pharmacodynamics pathway  (EXP)
hydrochlorothiazide pharmacodynamics pathway  (EXP)
hydrocodone pharmacodynamics pathway  (EXP)
hydroflumethiazide pharmacodynamics pathway  (EXP)
hydromorphone pharmacodynamics pathway  (EXP)
ibutilide pharmacodynamics pathway  (EXP)
iminoglycinuria pathway  (EXP)
imipramine pharmacodynamics pathway  (EXP)
isoprenaline pharmacodynamics pathway  (EXP)
isradipine pharmacodynamics pathway  (EXP)
lactose degradation pathway  (EXP)
levacetylmethadol pharmacodynamics pathway  (EXP)
levobunolol pharmacodynamics pathway  (EXP)
levobupivacaine phgarmacodynamics pathway  (EXP)
levorphanol pharmacodynamics pathway  (EXP)
lidocaine pharmacodynamics pathway  (EXP)
lysinuric protein intolerance pathway  (EXP)
mepivacaine pharmacodynamics pathway  (EXP)
methadone pharmacodynamics pathway  (EXP)
metolazone pharmacodynamics pathway  (EXP)
metoprolol pharmacodynamics pathway  (EXP)
mexiletine pharmacodynamics pathway  (EXP)
nadolol pharmacodynamics pathway  (EXP)
nalbuphine pharmacodynamics pathway  (EXP)
naloxone pharmacodynamics pathway  (EXP)
naltrexone pharmacodynamics pathway  (EXP)
nebivolol pharmacodynamics pathway  (EXP)
nicotine pharmacodynamics pathway  (EXP)
nifedipine pharmacodynamics pathway  (EXP)
nimodipine pharmacodynamics pathway  (EXP)
nisoldipine pharmacodynamics pathway  (EXP)
nitrendipine pharmacodynamics pathway  (EXP)
oxybuprocaine pharmacodynamics pathway  (EXP)
oxycodone pharmacodynamics pathway  (EXP)
oxymorphone pharmacodynamics pathway  (EXP)
penbutolol pharmacodynamics pathway  (EXP)
pentazocine pharmacodynamics pathway  (EXP)
phenytoin pharmacodynamics pathway  (EXP)
pindolol pharmacodynamics pathway  (EXP)
prilocaine pharmacodynamics pathway  (EXP)
procainamide pharmacodynamics pathway  (EXP)
procaine pharmacodynamics pathway  (EXP)
propranolol pharmacodynamics pathway  (EXP)
quinidine pharmacodynamics pathway  (EXP)
remifentanil pharmacodynamics pathway  (EXP)
ropivacaine pharmacodynamics pathway  (EXP)
sotalol pharmacodynamics pathway  (EXP)
spironolactone pharmacodynamics pathway  (EXP)
timolol pharmacodynamics pathway  (EXP)
torasemide pharmacodynamics pathway  (EXP)
tramadol pharmacodynamics pathway  (EXP)
trehalose degradation pathway  (EXP)
triamterene pharmacodynamics pathway  (EXP)
trichlormethiazide pharmacodynamics pathway  (EXP)
verapamil pharmacodynamics pathway  (EXP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormality of earlobe  (IAGP)
Abnormality of eye movement  (IAGP)
Anxiety  (IAGP)
Areflexia  (IAGP)
Ataxia  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Blindness  (IAGP)
Bradykinesia  (IAGP)
Cerebellar atrophy  (IAGP)
Choreoathetosis  (IAGP)
Cognitive impairment  (IAGP)
Depressed nasal bridge  (IAGP)
Depressivity  (IAGP)
Drooling  (IAGP)
Dysarthria  (IAGP)
Dysmetria  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
Emotional lability  (IAGP)
Encephalopathy  (IAGP)
Epicanthus  (IAGP)
Epicanthus palpebralis  (IAGP)
Epileptic encephalopathy  (IAGP)
Episodic ataxia  (IAGP)
Episodic generalized hypotonia  (IAGP)
Episodic quadriplegia  (IAGP)
Esophageal atresia  (IAGP)
Fever  (IAGP)
Gait ataxia  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hemiparesis  (IAGP)
Hemiplegia  (IAGP)
Hypomimic face  (IAGP)
Incomplete penetrance  (IAGP)
Incoordination  (IAGP)
Intellectual disability  (IAGP)
Limb dystonia  (IAGP)
Mental deterioration  (IAGP)
Motor delay  (IAGP)
Muscle weakness  (IAGP)
Mutism  (IAGP)
Nystagmus  (IAGP)
Oculogyric crisis  (IAGP)
Optic atrophy  (IAGP)
Parkinsonism  (IAGP)
Pes cavus  (IAGP)
Postural instability  (IAGP)
Progressive sensorineural hearing impairment  (IAGP)
Progressive visual loss  (IAGP)
Resting tremor  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Status epilepticus  (IAGP)
Tetraparesis  (IAGP)
Torticollis  (IAGP)
Truncal ataxia  (IAGP)
Unsteady gait  (IAGP)
Ventriculomegaly  (IAGP)
Young adult onset  (IAGP)
References

Additional References at PubMed
PMID:2158121   PMID:2834163   PMID:2838329   PMID:2842249   PMID:2887455   PMID:2907504   PMID:3030810   PMID:3035563   PMID:3036582   PMID:8125298   PMID:10443882   PMID:10636900  
PMID:11546672   PMID:12477932   PMID:12634653   PMID:14702039   PMID:15071553   PMID:15260953   PMID:15462673   PMID:15489334   PMID:16712791   PMID:16713569   PMID:17244347   PMID:17282997  
PMID:17446412   PMID:17516473   PMID:17595045   PMID:18184478   PMID:18957371   PMID:19058785   PMID:19351654   PMID:19683723   PMID:19751721   PMID:20065300   PMID:20301294   PMID:20301317  
PMID:20301334   PMID:20576601   PMID:21072501   PMID:21181095   PMID:21196491   PMID:21498719   PMID:21873635   PMID:22423096   PMID:22658674   PMID:22842232   PMID:22850527   PMID:22924536  
PMID:23409136   PMID:23464991   PMID:23483595   PMID:23527305   PMID:23963607   PMID:24100174   PMID:24356962   PMID:24391932   PMID:24436111   PMID:24523486   PMID:24639526   PMID:24739246  
PMID:24768197   PMID:24769233   PMID:24842602   PMID:24996492   PMID:25433904   PMID:25447930   PMID:25640309   PMID:25756610   PMID:25921289   PMID:25994790   PMID:25996915   PMID:26003227  
PMID:26186194   PMID:26224839   PMID:26297560   PMID:26323479   PMID:26344197   PMID:26373354   PMID:26410222   PMID:26453127   PMID:26871627   PMID:27684187   PMID:27726050   PMID:27836549  
PMID:27936181   PMID:28514442   PMID:28647130   PMID:29184165   PMID:29305691   PMID:29331416   PMID:29395663   PMID:29396171   PMID:29511261   PMID:29567111   PMID:29791485   PMID:29845934  
PMID:29991511   PMID:30392204   PMID:30409907   PMID:30862413   PMID:30891744   PMID:31073040   PMID:31091453   PMID:31361359   PMID:31425744   PMID:31586073   PMID:31746080   PMID:32339621  
PMID:32440726   PMID:32454213   PMID:32694731   PMID:32814053   PMID:32913013  


Genomics

Comparative Map Data
ATP1A3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1941,966,582 - 41,997,497 (-)EnsemblGRCh38hg38GRCh38
GRCh381941,966,582 - 41,994,230 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371942,470,734 - 42,498,382 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361947,162,574 - 47,190,222 (-)NCBINCBI36hg18NCBI36
Build 341947,162,575 - 47,190,222NCBI
Celera1939,270,362 - 39,298,001 (-)NCBI
Cytogenetic Map19q13.2NCBI
HuRef1938,902,456 - 38,930,242 (-)NCBIHuRef
CHM1_11942,472,364 - 42,500,045 (-)NCBICHM1_1
Atp1a3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39724,677,592 - 24,705,502 (-)NCBIGRCm39mm39
GRCm39 Ensembl724,677,592 - 24,705,383 (-)Ensembl
GRCm38724,978,167 - 25,006,077 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl724,978,167 - 25,005,958 (-)EnsemblGRCm38mm10GRCm38
MGSCv37725,763,186 - 25,790,914 (-)NCBIGRCm37mm9NCBIm37
MGSCv36724,686,927 - 24,714,655 (-)NCBImm8
Celera719,593,974 - 19,621,705 (-)NCBICelera
Cytogenetic Map7A3NCBI
cM Map713.73NCBI
Atp1a3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2180,572,790 - 80,601,936 (-)NCBI
Rnor_6.0 Ensembl181,852,429 - 81,881,549 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0181,852,423 - 81,881,565 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0183,104,725 - 83,133,845 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4180,280,714 - 80,309,834 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1180,358,824 - 80,387,945 (-)NCBI
Celera175,018,852 - 75,047,865 (-)NCBICelera
RH 3.4 Map1842.5RGD
RH 2.0 Map1501.2RGD
Cytogenetic Map1q21NCBI
Atp1a3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955555869,508 - 892,510 (+)NCBIChiLan1.0ChiLan1.0
ATP1A3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11947,357,926 - 47,383,736 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v01938,854,243 - 38,882,034 (-)NCBIMhudiblu_PPA_v0panPan3
ATP1A3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11112,325,988 - 112,346,056 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1112,325,289 - 112,346,916 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1111,758,069 - 111,778,105 (+)NCBI
ROS_Cfam_1.01112,945,619 - 112,965,659 (+)NCBI
UMICH_Zoey_3.11112,498,938 - 112,518,971 (+)NCBI
UNSW_CanFamBas_1.01112,135,175 - 112,155,359 (+)NCBI
UU_Cfam_GSD_1.01113,061,496 - 113,081,538 (+)NCBI
Atp1a3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934916,130,267 - 16,147,315 (+)NCBI
SpeTri2.0NW_004936706476,473 - 494,659 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ATP1A3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1649,905,851 - 49,927,437 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2645,929,174 - 45,946,082 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ATP1A3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1636,166,586 - 36,195,343 (-)NCBI
Vero_WHO_p1.0NW_02366607314,408,818 - 14,437,805 (-)NCBI
Atp1a3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624907715,109 - 736,040 (+)NCBI

Position Markers
D19S198  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371942,153,083 - 42,153,201UniSTSGRCh37
Build 361946,844,923 - 46,845,041RGDNCBI36
Celera1938,952,908 - 38,953,026RGD
Cytogenetic Map19q13.31UniSTS
HuRef1938,584,922 - 38,585,040UniSTS
Marshfield Genetic Map1965.77UniSTS
Marshfield Genetic Map1965.77RGD
deCODE Assembly Map1968.35UniSTS
D19S900  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371944,167,407 - 44,167,579UniSTSGRCh37
Build 361948,859,247 - 48,859,419RGDNCBI36
Celera1940,969,904 - 40,970,070RGD
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13UniSTS
HuRef1940,598,000 - 40,598,160UniSTS
Marshfield Genetic Map1967.37RGD
Marshfield Genetic Map1967.37UniSTS
Genethon Genetic Map1967.1UniSTS
deCODE Assembly Map1970.16UniSTS
Stanford-G3 RH Map192163.0UniSTS
Whitehead-YAC Contig Map19 UniSTS
NCBI RH Map19445.7UniSTS
GeneMap99-G3 RH Map192174.0UniSTS
D19S587  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371935,210,093 - 35,210,246UniSTSGRCh37
Build 361939,901,933 - 39,902,086RGDNCBI36
Celera1931,922,495 - 31,922,640RGD
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q12UniSTS
HuRef1931,716,843 - 31,716,992UniSTS
Marshfield Genetic Map1959.36UniSTS
Marshfield Genetic Map1959.36RGD
deCODE Assembly Map1959.0UniSTS
Whitehead-RH Map19279.4UniSTS
Whitehead-YAC Contig Map19 UniSTS
NCBI RH Map19351.9UniSTS
RH78939  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371942,470,572 - 42,470,721UniSTSGRCh37
Build 361947,162,412 - 47,162,561RGDNCBI36
Celera1939,270,200 - 39,270,349RGD
Cytogenetic Map19q13.31UniSTS
HuRef1938,902,294 - 38,902,443UniSTS
GeneMap99-GB4 RH Map19239.52UniSTS
NCBI RH Map19418.1UniSTS
GDB:196994  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371942,497,582 - 42,497,759UniSTSGRCh37
Build 361947,189,422 - 47,189,599RGDNCBI36
Celera1939,297,201 - 39,297,378RGD
Cytogenetic Map19q13.31UniSTS
HuRef1938,929,402 - 38,929,573UniSTS
D19S265E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371942,471,092 - 42,471,476UniSTSGRCh37
Build 361947,162,932 - 47,163,316RGDNCBI36
Celera1939,270,720 - 39,271,104RGD
Cytogenetic Map19q13.31UniSTS
HuRef1938,902,814 - 38,903,198UniSTS
hsatpn22  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371942,471,099 - 42,471,294UniSTSGRCh37
Build 361947,162,939 - 47,163,134RGDNCBI36
Celera1939,270,727 - 39,270,922RGD
Cytogenetic Map19q13.31UniSTS
HuRef1938,902,821 - 38,903,016UniSTS
GeneMap99-GB4 RH Map19244.28UniSTS
NCBI RH Map19449.9UniSTS
ATP1A3_2763  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371942,470,742 - 42,471,164UniSTSGRCh37
Build 361947,162,582 - 47,163,004RGDNCBI36
Celera1939,270,370 - 39,270,792RGD
HuRef1938,902,464 - 38,902,886UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3230
Count of miRNA genes:868
Interacting mature miRNAs:1067
Transcripts:ENST00000302102, ENST00000441343, ENST00000465007, ENST00000468774, ENST00000473086, ENST00000485672, ENST00000543770, ENST00000545399, ENST00000602133
Prediction methods:Microtar, 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 pharyngeal arch
High 1 7
Medium 143 839 309 6 140 6 177 439 2840 18 418 116 4 1 2 1
Low 1879 718 263 109 1222 46 386 810 315 108 271 519 69 102 218 2
Below cutoff 411 1388 1073 436 476 340 3731 928 567 261 759 966 101 1097 2511 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC010616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY946015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX478337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB156520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB482528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M90658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X12910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000441343   ⟹   ENSP00000411503
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1941,966,582 - 41,994,214 (-)Ensembl
RefSeq Acc Id: ENST00000465007
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1941,988,205 - 41,988,557 (-)Ensembl
RefSeq Acc Id: ENST00000468774
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1941,987,999 - 41,993,522 (-)Ensembl
RefSeq Acc Id: ENST00000473086   ⟹   ENSP00000469129
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1941,985,067 - 41,997,497 (-)Ensembl
RefSeq Acc Id: ENST00000485672
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1941,984,254 - 41,985,342 (-)Ensembl
RefSeq Acc Id: ENST00000543770   ⟹   ENSP00000437577
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1941,966,621 - 41,993,467 (-)Ensembl
RefSeq Acc Id: ENST00000545399   ⟹   ENSP00000444688
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1941,966,584 - 41,994,270 (-)Ensembl
RefSeq Acc Id: ENST00000602133   ⟹   ENSP00000471581
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1941,966,584 - 41,994,079 (-)Ensembl
RefSeq Acc Id: ENST00000636197   ⟹   ENSP00000489877
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1941,988,476 - 41,993,864 (-)Ensembl
RefSeq Acc Id: ENST00000636258
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1941,988,490 - 41,992,953 (-)Ensembl
RefSeq Acc Id: ENST00000636282
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1941,988,491 - 41,993,079 (-)Ensembl
RefSeq Acc Id: ENST00000637406
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1941,988,508 - 41,990,951 (-)Ensembl
RefSeq Acc Id: ENST00000645448
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1941,985,210 - 41,986,701 (-)Ensembl
RefSeq Acc Id: ENST00000648268   ⟹   ENSP00000498113
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1941,966,582 - 41,994,230 (-)Ensembl
RefSeq Acc Id: NM_001256213   ⟹   NP_001243142
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381941,966,582 - 41,993,467 (-)NCBI
GRCh371942,470,628 - 42,498,428 (-)NCBI
HuRef1938,902,456 - 38,930,242 (-)NCBI
CHM1_11942,472,364 - 42,499,240 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001256214   ⟹   NP_001243143
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381941,966,582 - 41,994,230 (-)NCBI
GRCh371942,470,628 - 42,498,428 (-)NCBI
HuRef1938,902,456 - 38,930,242 (-)NCBI
CHM1_11942,472,364 - 42,500,045 (-)NCBI
Sequence:
RefSeq Acc Id: NM_152296   ⟹   NP_689509
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381941,966,582 - 41,994,230 (-)NCBI
GRCh371942,470,628 - 42,498,428 (-)NCBI
Build 361947,162,574 - 47,190,222 (-)NCBI Archive
HuRef1938,902,456 - 38,930,242 (-)NCBI
CHM1_11942,472,364 - 42,500,045 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_689509   ⟸   NM_152296
- Peptide Label: isoform 1
- UniProtKB: P13637 (UniProtKB/Swiss-Prot),   Q53ES0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001243143   ⟸   NM_001256214
- Peptide Label: isoform 3
- UniProtKB: P13637 (UniProtKB/Swiss-Prot),   Q53ES0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001243142   ⟸   NM_001256213
- Peptide Label: isoform 2
- UniProtKB: P13637 (UniProtKB/Swiss-Prot),   Q53ES0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000498113   ⟸   ENST00000648268
RefSeq Acc Id: ENSP00000489877   ⟸   ENST00000636197
RefSeq Acc Id: ENSP00000437577   ⟸   ENST00000543770
RefSeq Acc Id: ENSP00000444688   ⟸   ENST00000545399
RefSeq Acc Id: ENSP00000411503   ⟸   ENST00000441343
RefSeq Acc Id: ENSP00000471581   ⟸   ENST00000602133
RefSeq Acc Id: ENSP00000469129   ⟸   ENST00000473086
Protein Domains
Cation_ATPase_N

Promoters
RGD ID:7240133
Promoter ID:EPDNEW_H25812
Type:initiation region
Name:ATP1A3_3
Description:ATPase Na+/K+ transporting subunit alpha 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25813  EPDNEW_H25814  EPDNEW_H25815  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381941,966,766 - 41,966,826EPDNEW
RGD ID:7240135
Promoter ID:EPDNEW_H25813
Type:initiation region
Name:ATP1A3_4
Description:ATPase Na+/K+ transporting subunit alpha 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25812  EPDNEW_H25814  EPDNEW_H25815  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381941,967,106 - 41,967,166EPDNEW
RGD ID:7240137
Promoter ID:EPDNEW_H25814
Type:multiple initiation site
Name:ATP1A3_2
Description:ATPase Na+/K+ transporting subunit alpha 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25812  EPDNEW_H25813  EPDNEW_H25815  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381941,981,816 - 41,981,876EPDNEW
RGD ID:7240139
Promoter ID:EPDNEW_H25815
Type:initiation region
Name:ATP1A3_1
Description:ATPase Na+/K+ transporting subunit alpha 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25812  EPDNEW_H25813  EPDNEW_H25814  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381941,994,230 - 41,994,290EPDNEW
RGD ID:6795158
Promoter ID:HG_KWN:30061
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour
Transcripts:NM_152296,   OTTHUMT00000268111,   OTTHUMT00000268112,   OTTHUMT00000268113,   OTTHUMT00000268114,   UC002OSH.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361947,189,744 - 47,190,244 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_152296.5(ATP1A3):c.2856G>A (p.Thr952=) single nucleotide variant Dystonia 12 [RCV000556205] Chr19:41967727 [GRCh38]
Chr19:42471879 [GRCh37]
Chr19:19q13.2
likely benign
NM_152296.5(ATP1A3):c.910G>A (p.Gly304Arg) single nucleotide variant Dystonia 12 [RCV000558771] Chr19:41985001 [GRCh38]
Chr19:42489153 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn) single nucleotide variant ATP1A3-Related Disorders [RCV001265551]|Alternating hemiplegia of childhood 2 [RCV000030749]|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [RCV000515424]|Dystonia 12 [RCV000644928]|Dystonia [RCV001004008]|Inborn genetic diseases [RCV000624579]|not provided [RCV000413511] Chr19:41970405 [GRCh38]
Chr19:42474557 [GRCh37]
Chr19:19q13.2
pathogenic|likely pathogenic
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000030750]|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [RCV000763433]|Dystonia 12 [RCV000469482]|Global developmental delay [RCV000626997]|Inborn genetic diseases [RCV001267254]|not provided [RCV000432504]|not specified [RCV001192636] Chr19:41970284 [GRCh38]
Chr19:42474436 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.2431T>C (p.Ser811Pro) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000030751]|Dystonia 12 [RCV000541711] Chr19:41970296 [GRCh38]
Chr19:42474448 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV001004717]|Dystonia 12 [RCV000013772]|not provided [RCV000726724] Chr19:41978041 [GRCh38]
Chr19:42482193 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.821T>C (p.Ile274Thr) single nucleotide variant Dystonia 12 [RCV000013773] Chr19:41985090 [GRCh38]
Chr19:42489242 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.829G>A (p.Glu277Lys) single nucleotide variant Dystonia 12 [RCV000013774] Chr19:41985082 [GRCh38]
Chr19:42489234 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.2273T>G (p.Ile758Ser) single nucleotide variant Dystonia 12 [RCV000013775] Chr19:41970533 [GRCh38]
Chr19:42474685 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.2338T>C (p.Phe780Leu) single nucleotide variant Dystonia 12 [RCV000013776] Chr19:41970468 [GRCh38]
Chr19:42474620 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.2401G>T (p.Asp801Tyr) single nucleotide variant Dystonia 12 [RCV000013777] Chr19:41970405 [GRCh38]
Chr19:42474557 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000128465]|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [RCV000763432]|Dystonia 12 [RCV000013778] Chr19:41968837 [GRCh38]
Chr19:42472989 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.531C>T (p.Val177=) single nucleotide variant Dystonia 12 [RCV000545681] Chr19:41985939 [GRCh38]
Chr19:42490091 [GRCh37]
Chr19:19q13.2
likely benign
NM_152296.5(ATP1A3):c.2976C>T (p.Asp992=) single nucleotide variant Dystonia 12 [RCV000552938] Chr19:41967286 [GRCh38]
Chr19:42471438 [GRCh37]
Chr19:19q13.2
benign
NM_152296.5(ATP1A3):c.1073G>C (p.Gly358Ala) single nucleotide variant Dystonia 12 [RCV000553164] Chr19:41982027 [GRCh38]
Chr19:42486179 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_152296.5(ATP1A3):c.816G>A (p.Thr272=) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV001130475]|Dystonia 12 [RCV001084095]|not provided [RCV000710703] Chr19:41985095 [GRCh38]
Chr19:42489247 [GRCh37]
Chr19:19q13.2
benign
NM_152296.5(ATP1A3):c.191G>A (p.Arg64Gln) single nucleotide variant Dystonia 12 [RCV000560382] Chr19:41988102 [GRCh38]
Chr19:42492254 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_152296.5(ATP1A3):c.1388G>A (p.Arg463His) single nucleotide variant Dystonia 12 [RCV000559746] Chr19:41981551 [GRCh38]
Chr19:42485703 [GRCh37]
Chr19:19q13.2
likely benign|uncertain significance
NM_152296.5(ATP1A3):c.2747T>G (p.Ile916Ser) single nucleotide variant not provided [RCV000522101] Chr19:41968857 [GRCh38]
Chr19:42473009 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_152296.5(ATP1A3):c.891C>T (p.Phe297=) single nucleotide variant Dystonia 12 [RCV000546242] Chr19:41985020 [GRCh38]
Chr19:42489172 [GRCh37]
Chr19:19q13.2
likely benign
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000030752]|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [RCV000763431]|Dystonia 12 [RCV000476589]|Epilepsy [RCV000415180]|not provided [RCV000418823] Chr19:41967744 [GRCh38]
Chr19:42471896 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.*196_*198dup duplication Dystonia 12 [RCV000013779] Chr19:41966739..41966741 [GRCh38]
Chr19:42470891..42470893 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.2051C>T (p.Ser684Phe) single nucleotide variant Dystonia 12 [RCV000055992] Chr19:41976459 [GRCh38]
Chr19:42480611 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.4(ATP1A3):c.976_978delCTG (p.Leu327del) deletion Dystonia 12 [RCV000055994] Chr19:41984933..41984935 [GRCh38]
Chr19:42489085..42489087 [GRCh37]
Chr19:19q13.2
pathogenic
GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3 copy number gain See cases [RCV000050636] Chr19:37319377..42738688 [GRCh38]
Chr19:37810279..43242840 [GRCh37]
Chr19:42502119..47934680 [NCBI36]
Chr19:19q13.12-13.2
pathogenic
GRCh38/hg38 19q13.2-13.31(chr19:41930894-43141456)x1 copy number loss See cases [RCV000053975] Chr19:41930894..43141456 [GRCh38]
Chr19:42514712..43645608 [GRCh37]
Chr19:47126886..48337448 [NCBI36]
Chr19:19q13.2-13.31
pathogenic
NM_152296.4(ATP1A3):c.2014C>T (p.Leu672=) single nucleotide variant Malignant melanoma [RCV000072171] Chr19:41976496 [GRCh38]
Chr19:42480648 [GRCh37]
Chr19:47172488 [NCBI36]
Chr19:19q13.2
not provided
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000195001]|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [RCV000144250]|Dystonia 12 [RCV000234480]|Inborn genetic diseases [RCV000190725]|not provided [RCV000314245] Chr19:41970275 [GRCh38]
Chr19:42474427 [GRCh37]
Chr19:19q13.2
pathogenic|uncertain significance
NM_152296.5(ATP1A3):c.971A>G (p.Glu324Gly) single nucleotide variant Inborn genetic diseases [RCV000190721] Chr19:41984940 [GRCh38]
Chr19:42489092 [GRCh37]
Chr19:19q13.2
pathogenic|likely pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31
pathogenic
NM_152296.5(ATP1A3):c.2839G>C (p.Gly947Arg) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000128466] Chr19:41967744 [GRCh38]
Chr19:42471896 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000145247]|Dystonia 12 [RCV000283640]|not provided [RCV000857914]|not specified [RCV000406176] Chr19:41981616 [GRCh38]
Chr19:42485768 [GRCh37]
Chr19:19q13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152296.5(ATP1A3):c.2319T>C (p.Asn773=) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000386733]|Dystonia 12 [RCV000292498]|not specified [RCV000145248] Chr19:41970487 [GRCh38]
Chr19:42474639 [GRCh37]
Chr19:19q13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_152296.5(ATP1A3):c.666T>G (p.Thr222=) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000285864]|Dystonia 12 [RCV000322134]|not provided [RCV000710702]|not specified [RCV000145249] Chr19:41985364 [GRCh38]
Chr19:42489516 [GRCh37]
Chr19:19q13.2
benign|likely benign
NM_152296.5(ATP1A3):c.410C>A (p.Ser137Tyr) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000148302]|Dystonia 12 [RCV001206535] Chr19:41986177 [GRCh38]
Chr19:42490329 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.410C>T (p.Ser137Phe) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000148303]|Dystonia 12 [RCV001234241]|Epicanthus [RCV000414799] Chr19:41986177 [GRCh38]
Chr19:42490329 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.419A>T (p.Gln140Leu) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000148304] Chr19:41986168 [GRCh38]
Chr19:42490320 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.821T>A (p.Ile274Asn) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000148305] Chr19:41985090 [GRCh38]
Chr19:42489242 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.965T>A (p.Val322Asp) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000148306] Chr19:41984946 [GRCh38]
Chr19:42489098 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.976_978CTG[1] (p.Leu327del) microsatellite Dystonia 12 [RCV000148307] Chr19:41984930..41984932 [GRCh38]
Chr19:42489082..42489084 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.998G>T (p.Cys333Phe) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000148308] Chr19:41982102 [GRCh38]
Chr19:42486254 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.1003A>C (p.Thr335Pro) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000148309] Chr19:41982097 [GRCh38]
Chr19:42486249 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.1072G>T (p.Gly358Cys) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000148310] Chr19:41982028 [GRCh38]
Chr19:42486180 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.1112T>C (p.Leu371Pro) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000148311] Chr19:41981988 [GRCh38]
Chr19:42486140 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.2264G>C (p.Gly755Ala) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000148312] Chr19:41970542 [GRCh38]
Chr19:42474694 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.2263G>A (p.Gly755Ser) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000148313] Chr19:41975629 [GRCh38]
Chr19:42479781 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.2263G>T (p.Gly755Cys) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000148314]|Dystonia 12 [RCV000816262]|not provided [RCV001091181] Chr19:41975629 [GRCh38]
Chr19:42479781 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000578251]|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [RCV000791274]|Dystonia 12 [RCV000148315]|Inborn genetic diseases [RCV000624894]|not provided [RCV000489717] Chr19:41970539 [GRCh38]
Chr19:42474691 [GRCh37]
Chr19:19q13.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_152296.5(ATP1A3):c.2270T>C (p.Leu757Pro) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000148316] Chr19:41970536 [GRCh38]
Chr19:42474688 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.2312C>A (p.Thr771Asn) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000148317] Chr19:41970494 [GRCh38]
Chr19:42474646 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.2316C>A (p.Ser772Arg) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000148318] Chr19:41970490 [GRCh38]
Chr19:42474642 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.2318A>G (p.Asn773Ser) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000148319] Chr19:41970488 [GRCh38]
Chr19:42474640 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.2318A>T (p.Asn773Ile) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000148320] Chr19:41970488 [GRCh38]
Chr19:42474640 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.2411C>T (p.Thr804Ile) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000148321] Chr19:41970395 [GRCh38]
Chr19:42474547 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.2415C>G (p.Asp805Glu) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000148322]|Dystonia 12 [RCV001058556] Chr19:41970391 [GRCh38]
Chr19:42474543 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.2417T>G (p.Met806Arg) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000148323]|Dystonia 12 [RCV000644929] Chr19:41970389 [GRCh38]
Chr19:42474541 [GRCh37]
Chr19:19q13.2
pathogenic|likely pathogenic
NM_152296.5(ATP1A3):c.2428A>T (p.Ile810Phe) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000148324] Chr19:41970299 [GRCh38]
Chr19:42474451 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.2429T>G (p.Ile810Ser) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000148325] Chr19:41970298 [GRCh38]
Chr19:42474450 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.2542+1G>A single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000148326] Chr19:41970184 [GRCh38]
Chr19:42474336 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.2600G>A (p.Gly867Asp) single nucleotide variant Dystonia 12 [RCV000148327] Chr19:41969523 [GRCh38]
Chr19:42473675 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.2752_2754GTC[1] (p.Val919del) microsatellite Alternating hemiplegia of childhood 2 [RCV000148328]|Dystonia 12 [RCV000818134] Chr19:41968847..41968849 [GRCh38]
Chr19:42472999..42473001 [GRCh37]
Chr19:19q13.2
pathogenic|uncertain significance
NM_152296.5(ATP1A3):c.2767G>T (p.Asp923Tyr) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000148329]|Dystonia 12 [RCV000689821]|not provided [RCV000489720] Chr19:41968837 [GRCh38]
Chr19:42472989 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.2780G>A (p.Cys927Tyr) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000148330] Chr19:41968824 [GRCh38]
Chr19:42472976 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.2780G>T (p.Cys927Phe) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000148331] Chr19:41968824 [GRCh38]
Chr19:42472976 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.2781C>G (p.Cys927Trp) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000148332] Chr19:41968823 [GRCh38]
Chr19:42472975 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.2864C>A (p.Ala955Asp) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000148333] Chr19:41967719 [GRCh38]
Chr19:42471871 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.2974G>T (p.Asp992Tyr) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000148334] Chr19:41967288 [GRCh38]
Chr19:42471440 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.3035_3037ACT[3] (p.Tyr1013dup) microsatellite Dystonia 12 [RCV000148335] Chr19:41966938..41966939 [GRCh38]
Chr19:42471090..42471091 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.1109C>A (p.Thr370Asn) single nucleotide variant Dystonia 12 [RCV000148336] Chr19:41981991 [GRCh38]
Chr19:42486143 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.1144T>C (p.Trp382Arg) single nucleotide variant Dystonia 12 [RCV000148337] Chr19:41981956 [GRCh38]
Chr19:42486108 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.1250T>C (p.Leu417Pro) single nucleotide variant Dystonia 12 [RCV000148338] Chr19:41981774 [GRCh38]
Chr19:42485926 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.967C>T (p.Pro323Ser) single nucleotide variant not provided [RCV000203207] Chr19:41984944 [GRCh38]
Chr19:42489096 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.974G>A (p.Gly325Asp) single nucleotide variant Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [RCV000199314] Chr19:41984937 [GRCh38]
Chr19:42489089 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_152296.5(ATP1A3):c.2401G>C (p.Asp801His) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000193987] Chr19:41970405 [GRCh38]
Chr19:42474557 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_152296.5(ATP1A3):c.1027C>T (p.Arg343Trp) single nucleotide variant Dystonia 12 [RCV001064233]|not specified [RCV000195268] Chr19:41982073 [GRCh38]
Chr19:42486225 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_152296.5(ATP1A3):c.154-5C>G single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000264122]|Dystonia 12 [RCV000358733]|not provided [RCV000710699]|not specified [RCV000325331] Chr19:41988144 [GRCh38]
Chr19:42492296 [GRCh37]
Chr19:19q13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_152296.5(ATP1A3):c.385G>A (p.Val129Met) single nucleotide variant Juvenile onset psychosis [RCV000225081] Chr19:41986202 [GRCh38]
Chr19:42490354 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.2367G>A (p.Pro789=) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV001130964]|Dystonia 12 [RCV000548999] Chr19:41970439 [GRCh38]
Chr19:42474591 [GRCh37]
Chr19:19q13.2
benign|likely benign
NM_152296.5(ATP1A3):c.250C>G (p.Arg84Gly) single nucleotide variant Dystonia 12 [RCV000549638] Chr19:41988043 [GRCh38]
Chr19:42492195 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_152296.5(ATP1A3):c.946G>A (p.Gly316Ser) single nucleotide variant Dystonia 12 [RCV000210848] Chr19:41984965 [GRCh38]
Chr19:42489117 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.4(ATP1A3):c.424G>A (p.Ala142Thr) single nucleotide variant Juvenile onset psychosis [RCV000225081] Chr19:41986163 [GRCh38]
Chr19:42490315 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.958G>A (p.Ala320Thr) single nucleotide variant not provided [RCV000238744] Chr19:41984953 [GRCh38]
Chr19:42489105 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_152296.5(ATP1A3):c.315C>T (p.Tyr105=) single nucleotide variant Dystonia 12 [RCV001089215]|not provided [RCV000487559] Chr19:41987978 [GRCh38]
Chr19:42492130 [GRCh37]
Chr19:19q13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152296.5(ATP1A3):c.2610C>T (p.Pro870=) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000265803]|Dystonia 12 [RCV000320873]|not provided [RCV000710701] Chr19:41969513 [GRCh38]
Chr19:42473665 [GRCh37]
Chr19:19q13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_152296.5(ATP1A3):c.207A>T (p.Ala69=) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000303923]|Dystonia 12 [RCV000267596] Chr19:41988086 [GRCh38]
Chr19:42492238 [GRCh37]
Chr19:19q13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_152296.5(ATP1A3):c.2838C>T (p.Phe946=) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000267838]|Dystonia 12 [RCV000360106] Chr19:41967745 [GRCh38]
Chr19:42471897 [GRCh37]
Chr19:19q13.2
benign|likely benign
NM_152296.5(ATP1A3):c.1695C>T (p.Asp565=) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000290405]|Dystonia 12 [RCV000327163]|not provided [RCV000710700] Chr19:41978262 [GRCh38]
Chr19:42482414 [GRCh37]
Chr19:19q13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152296.5(ATP1A3):c.1011C>T (p.Thr337=) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000328686]|Dystonia 12 [RCV000273518] Chr19:41982089 [GRCh38]
Chr19:42486241 [GRCh37]
Chr19:19q13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_152296.5(ATP1A3):c.*298C>T single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000291971]|Dystonia 12 [RCV000349554] Chr19:41966639 [GRCh38]
Chr19:42470791 [GRCh37]
Chr19:19q13.2
likely benign|uncertain significance
NM_152296.5(ATP1A3):c.1806+14T>C single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000334033]|Dystonia 12 [RCV000260129] Chr19:41978137 [GRCh38]
Chr19:42482289 [GRCh37]
Chr19:19q13.2
likely benign|uncertain significance
NM_152296.5(ATP1A3):c.363C>T (p.Tyr121=) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000296095]|Dystonia 12 [RCV000351114] Chr19:41986224 [GRCh38]
Chr19:42490376 [GRCh37]
Chr19:19q13.2
benign|likely benign
NM_152296.5(ATP1A3):c.2334G>A (p.Thr778=) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000296160]|Dystonia 12 [RCV000350904] Chr19:41970472 [GRCh38]
Chr19:42474624 [GRCh37]
Chr19:19q13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000262098]|Dystonia 12 [RCV000375463]|not specified [RCV000517496] Chr19:41970240 [GRCh38]
Chr19:42474392 [GRCh37]
Chr19:19q13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_152296.5(ATP1A3):c.153+7C>T single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000319208]|Dystonia 12 [RCV000373996]|not provided [RCV000585257] Chr19:41988311 [GRCh38]
Chr19:42492463 [GRCh37]
Chr19:19q13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152296.5(ATP1A3):c.994-3C>G single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000364631]|Dystonia 12 [RCV000270151] Chr19:41982109 [GRCh38]
Chr19:42486261 [GRCh37]
Chr19:19q13.2
benign|likely benign
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) single nucleotide variant Dystonia 12 [RCV001197881]|Inborn genetic diseases [RCV001266079]|not provided [RCV000272828] Chr19:41970482 [GRCh38]
Chr19:42474634 [GRCh37]
Chr19:19q13.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_152296.5(ATP1A3):c.-148T>G single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000343433]|Dystonia 12 [RCV000404843] Chr19:41994224 [GRCh38]
Chr19:42498376 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000404431]|Dystonia 12 [RCV000311209]|not provided [RCV000513805] Chr19:41987936 [GRCh38]
Chr19:42492088 [GRCh37]
Chr19:19q13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_152296.5(ATP1A3):c.607-3C>T single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000376704]|Dystonia 12 [RCV000282141] Chr19:41985426 [GRCh38]
Chr19:42489578 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_152296.5(ATP1A3):c.1192+6C>T single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000368159]|Dystonia 12 [RCV000313300] Chr19:41981902 [GRCh38]
Chr19:42486054 [GRCh37]
Chr19:19q13.2
benign|likely benign
NM_152296.5(ATP1A3):c.909C>T (p.Leu303=) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000379893]|Dystonia 12 [RCV000325257] Chr19:41985002 [GRCh38]
Chr19:42489154 [GRCh37]
Chr19:19q13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152296.5(ATP1A3):c.2688+11C>A single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000306660]|Dystonia 12 [RCV000363684] Chr19:41969424 [GRCh38]
Chr19:42473576 [GRCh37]
Chr19:19q13.2
likely benign|uncertain significance
NM_152296.5(ATP1A3):c.*315G>A single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000383979]|Dystonia 12 [RCV000326946] Chr19:41966622 [GRCh38]
Chr19:42470774 [GRCh37]
Chr19:19q13.2
benign|likely benign
NM_152296.5(ATP1A3):c.6+3A>G single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000350142]|Dystonia 12 [RCV000385973]|not provided [RCV000858874]|not specified [RCV000518390] Chr19:41994068 [GRCh38]
Chr19:42498220 [GRCh37]
Chr19:19q13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152296.5(ATP1A3):c.270C>T (p.Phe90=) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000307876]|Dystonia 12 [RCV000362253] Chr19:41988023 [GRCh38]
Chr19:42492175 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_152296.5(ATP1A3):c.1281G>A (p.Gln427=) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000394092]|Dystonia 12 [RCV000352996] Chr19:41981743 [GRCh38]
Chr19:42485895 [GRCh37]
Chr19:19q13.2
benign|likely benign
NM_152296.5(ATP1A3):c.2840G>A (p.Gly947Glu) single nucleotide variant not provided [RCV000340517] Chr19:41967743 [GRCh38]
Chr19:42471895 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.1296G>T (p.Val432=) single nucleotide variant not provided [RCV000415740] Chr19:41981728 [GRCh38]
Chr19:42485880 [GRCh37]
Chr19:19q13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_152296.5(ATP1A3):c.1719C>A (p.Leu573=) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000275215]|Dystonia 12 [RCV000370082] Chr19:41978238 [GRCh38]
Chr19:42482390 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_152296.5(ATP1A3):c.1527C>T (p.Ser509=) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000287392]|Dystonia 12 [RCV000381814] Chr19:41978709 [GRCh38]
Chr19:42482861 [GRCh37]
Chr19:19q13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_152296.5(ATP1A3):c.2139C>G (p.Pro713=) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000288675]|Dystonia 12 [RCV000343601]|not provided [RCV000866212] Chr19:41975753 [GRCh38]
Chr19:42479905 [GRCh37]
Chr19:19q13.2
likely benign|uncertain significance
NM_152296.5(ATP1A3):c.1714A>G (p.Asn572Asp) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000384761]|Dystonia 12 [RCV000330241] Chr19:41978243 [GRCh38]
Chr19:42482395 [GRCh37]
Chr19:19q13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152296.5(ATP1A3):c.*236T>C single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000404501]|Dystonia 12 [RCV000334263] Chr19:41966701 [GRCh38]
Chr19:42470853 [GRCh37]
Chr19:19q13.2
benign|likely benign
NM_152296.5(ATP1A3):c.-64A>G single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000346477]|Dystonia 12 [RCV000291682] Chr19:41994140 [GRCh38]
Chr19:42498292 [GRCh37]
Chr19:19q13.2
likely benign|uncertain significance
NM_152296.5(ATP1A3):c.607-7C>A single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000337219]|Dystonia 12 [RCV000371931] Chr19:41985430 [GRCh38]
Chr19:42489582 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_152296.5(ATP1A3):c.1924G>A (p.Val642Ile) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000358956]|Dystonia 12 [RCV000395872] Chr19:41977955 [GRCh38]
Chr19:42482107 [GRCh37]
Chr19:19q13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152296.5(ATP1A3):c.147T>C (p.Cys49=) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000316480]|Dystonia 12 [RCV000260622]|not specified [RCV001288804] Chr19:41988324 [GRCh38]
Chr19:42492476 [GRCh37]
Chr19:19q13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_152296.5(ATP1A3):c.1303-15C>A single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000405974]|Dystonia 12 [RCV000298126] Chr19:41981651 [GRCh38]
Chr19:42485803 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_152296.5(ATP1A3):c.*106T>C single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000337913]|Dystonia 12 [RCV000299464] Chr19:41966831 [GRCh38]
Chr19:42470983 [GRCh37]
Chr19:19q13.2
benign|likely benign
NM_152296.5(ATP1A3):c.1500C>T (p.Ala500=) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000405133]|Dystonia 12 [RCV000342341] Chr19:41978736 [GRCh38]
Chr19:42482888 [GRCh37]
Chr19:19q13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152296.5(ATP1A3):c.1905C>T (p.Ala635=) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000354978]|Dystonia 12 [RCV000300607] Chr19:41977974 [GRCh38]
Chr19:42482126 [GRCh37]
Chr19:19q13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152296.5(ATP1A3):c.288C>T (p.Ile96=) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000347402]|Dystonia 12 [RCV000406454] Chr19:41988005 [GRCh38]
Chr19:42492157 [GRCh37]
Chr19:19q13.2
benign|likely benign
NM_152296.5(ATP1A3):c.2419-7C>T single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000371857]|Dystonia 12 [RCV000317333] Chr19:41970315 [GRCh38]
Chr19:42474467 [GRCh37]
Chr19:19q13.2
benign|likely benign
NM_152296.5(ATP1A3):c.*39C>G single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000303064]|Dystonia 12 [RCV000396748] Chr19:41966898 [GRCh38]
Chr19:42471050 [GRCh37]
Chr19:19q13.2
benign
NM_152296.5(ATP1A3):c.1943+12A>T single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000403835]|Dystonia 12 [RCV000304144] Chr19:41977924 [GRCh38]
Chr19:42482076 [GRCh37]
Chr19:19q13.2
benign|likely benign
NM_152296.5(ATP1A3):c.2512_2516delinsTC (p.Arg838_Leu839delinsSer) indel Alternating hemiplegia of childhood 2 [RCV000408604] Chr19:41970211..41970215 [GRCh38]
Chr19:42474363..42474367 [GRCh37]
Chr19:19q13.2
pathogenic
NM_152296.5(ATP1A3):c.968C>T (p.Pro323Leu) single nucleotide variant Dystonia 12 [RCV000703309]|not provided [RCV000489150] Chr19:41984943 [GRCh38]
Chr19:42489095 [GRCh37]
Chr19:19q13.2
likely pathogenic|uncertain significance
NM_152296.5(ATP1A3):c.7-43G>A single nucleotide variant not provided [RCV000487950] Chr19:41988605 [GRCh38]
Chr19:42492757 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_152296.5(ATP1A3):c.2328G>C (p.Glu776Asp) single nucleotide variant not provided [RCV000489928] Chr19:41970478 [GRCh38]
Chr19:42474630 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000501825]|Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [RCV000850500]|Dystonia 12 [RCV000692668]|Inborn genetic diseases [RCV000624914]|not provided [RCV000488196] Chr19:41970540 [GRCh38]
Chr19:42474692 [GRCh37]
Chr19:19q13.2
pathogenic|likely pathogenic
NM_152296.5(ATP1A3):c.2885C>A (p.Pro962His) single nucleotide variant Dystonia 12 [RCV000693938]|not provided [RCV000488938] Chr19:41967698 [GRCh38]
Chr19:42471850 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_152296.4(ATP1A3):c.-186G>A single nucleotide variant Alternating hemiplegia of childhood [RCV000358401]|Dystonia 12 [RCV000303872] Chr19:41994262 [GRCh38]
Chr19:42498414 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_152296.5(ATP1A3):c.2307C>T (p.Thr769=) single nucleotide variant Alternating hemiplegia of childhood 2 [RCV000402794]|Dystonia 12 [RCV000347472] Chr19:41970499 [GRCh38]
Chr19:42474651 [GRCh37]
Chr19:19q13.2
uncertain significance