GNAO1 (G protein subunit alpha o1) - Rat Genome Database

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Gene: GNAO1 (G protein subunit alpha o1) Homo sapiens
Analyze
Symbol: GNAO1
Name: G protein subunit alpha o1
RGD ID: 731076
HGNC Page HGNC:4389
Description: Predicted to enable several functions, including G protein-coupled receptor binding activity; G-protein beta/gamma-subunit complex binding activity; and potassium channel activator activity. Predicted to be involved in adenylate cyclase-modulating G protein-coupled receptor signaling pathway; dopamine receptor signaling pathway; and negative regulation of insulin secretion. Predicted to act upstream of with a negative effect on vesicle docking involved in exocytosis. Predicted to act upstream of or within G protein-coupled receptor signaling pathway; locomotory behavior; and regulation of heart contraction. Located in plasma membrane. Implicated in developmental and epileptic encephalopathy 17 and neurodevelopmental disorder with involuntary movements.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DEE17; DKFZp686O0962; EIEE17; G-ALPHA-o; GNAO; GO2-q chimeric G-protein; guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O; guanine nucleotide binding protein, alpha activating polypeptide O; guanine nucleotide-binding protein G(o) subunit alpha; guanine nucleotide-binding regulatory protein 2; heterotrimeric guanine nucleotide-binding protein 1G; HG1G; HLA-DQB1; NEDIM
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
GRCh381656,191,489 - 56,357,444 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1656,191,390 - 56,357,444 (+)EnsemblGRCh38hg38GRCh38
GRCh371656,225,401 - 56,391,356 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361654,783,649 - 54,948,651 (+)NCBINCBI36Build 36hg18NCBI36
Build 341654,783,648 - 54,935,363NCBI
Celera1640,722,067 - 40,888,176 (+)NCBICelera
Cytogenetic Map16q13NCBI
HuRef1642,096,140 - 42,261,995 (+)NCBIHuRef
CHM1_11657,632,612 - 57,798,711 (+)NCBICHM1_1
T2T-CHM13v2.01661,986,534 - 62,152,480 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-(4-iodo-2,5-dimethoxyphenyl)-1-methylethylamine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
butanal  (EXP)
cadmium atom  (EXP)
cannabidiol  (EXP)
cantharidin  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
cocaine  (EXP,ISO)
copper atom  (ISO)
copper(0)  (ISO)
crocidolite asbestos  (ISO)
Cuprizon  (EXP)
dexamethasone  (ISO)
diazinon  (EXP)
dichlorine  (ISO)
diethyl malate  (ISO)
dorsomorphin  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
Ethylenethiourea  (ISO)
fenvalerate  (ISO)
flavonoids  (ISO)
genistein  (ISO)
glyphosate  (ISO)
Guanabenz  (ISO)
guanosine 5'-[gamma-thio]triphosphate  (ISO)
haloperidol  (EXP)
ivermectin  (EXP)
lead diacetate  (ISO)
lead(0)  (EXP)
lipopolysaccharide  (ISO)
methapyrilene  (EXP)
methoxychlor  (ISO)
nickel atom  (EXP)
ozone  (ISO)
paraquat  (ISO)
pentanal  (EXP)
pentobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (ISO)
propanal  (EXP)
quercetin  (ISO)
reserpine  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP)
sulfadimethoxine  (ISO)
tamoxifen  (ISO)
testosterone  (EXP,ISO)
thapsigargin  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triptonide  (ISO)
valproic acid  (EXP)
venlafaxine hydrochloride  (ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormality of movement  (IAGP)
Abnormality of the nervous system  (IAGP)
Absent speech  (IAGP)
Absent thumbnail  (IAGP)
Anteverted nares  (IAGP)
Athetosis  (IAGP)
Atonic seizure  (IAGP)
Atrophy/Degeneration affecting the brainstem  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Broad finger  (IAGP)
Broad phalanx of the toes  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral atrophy  (IAGP)
Chorea  (IAGP)
Choreoathetosis  (IAGP)
Cleft palate  (IAGP)
Delayed CNS myelination  (IAGP)
Delayed myelination  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental regression  (IAGP)
Diffuse cerebral atrophy  (IAGP)
Diffuse white matter abnormalities  (IAGP)
Dyskinesia  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
EEG abnormality  (IAGP)
EEG with burst suppression  (IAGP)
EEG with spike-wave complexes  (IAGP)
Epileptic encephalopathy  (IAGP)
Episodic ataxia  (IAGP)
Failure to thrive  (IAGP)
Febrile seizure (within the age range of 3 months to 6 years)  (IAGP)
Focal impaired awareness seizure  (IAGP)
Focal tonic seizure  (IAGP)
Focal-onset seizure  (IAGP)
Generalized clonic seizure  (IAGP)
Generalized hypotonia  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Generalized tonic seizure  (IAGP)
Global developmental delay  (IAGP)
Hyperactivity  (IAGP)
Hyperkinetic movements  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypsarrhythmia  (IAGP)
Inability to walk  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile onset  (IAGP)
Infantile spasms  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, severe  (IAGP)
Involuntary movements  (IAGP)
Microcephaly  (IAGP)
Micropenis  (IAGP)
Multifocal epileptiform discharges  (IAGP)
Myoclonus  (IAGP)
Neonatal onset  (IAGP)
Orofacial dyskinesia  (IAGP)
Pachygyria  (IAGP)
Poor head control  (IAGP)
Precocious puberty  (IAGP)
Renal dysplasia  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Short finger  (IAGP)
Sleep abnormality  (IAGP)
Sloping forehead  (IAGP)
Spasticity  (IAGP)
Strabismus  (IAGP)
Tremor  (IAGP)
Umbilical hernia  (IAGP)
Uni- and bilateral multifocal epileptiform discharges  (IAGP)
Ureterocele  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Multiple neurological abnormalities in mice deficient in the G protein Go. Jiang M, etal., Proc Natl Acad Sci U S A 1998 Mar 17;95(6):3269-74.
3. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
4. Functionally selective dopamine D(2), D(3) receptor partial agonists. Moller D, etal., J Med Chem. 2014 Jun 12;57(11):4861-75. doi: 10.1021/jm5004039. Epub 2014 May 23.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
7. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1322796   PMID:1349607   PMID:1556134   PMID:1899283   PMID:1899868   PMID:1901650   PMID:2518353   PMID:3124840   PMID:7705473   PMID:7887906   PMID:8078296   PMID:8107314  
PMID:8208289   PMID:8393523   PMID:8521505   PMID:8552586   PMID:8869990   PMID:8986788   PMID:9050846   PMID:9079700   PMID:9271201   PMID:9359829   PMID:9572280   PMID:9647645  
PMID:9660808   PMID:10066808   PMID:10196137   PMID:10330115   PMID:10364213   PMID:10521440   PMID:10598591   PMID:10727532   PMID:10753665   PMID:10926822   PMID:10973974   PMID:11069896  
PMID:11101689   PMID:11118617   PMID:11124982   PMID:11253162   PMID:11259487   PMID:11395521   PMID:11732925   PMID:11916537   PMID:12039967   PMID:12477932   PMID:12509430   PMID:12711604  
PMID:12860983   PMID:12911629   PMID:12925752   PMID:14702039   PMID:15215290   PMID:15251452   PMID:16169070   PMID:16344560   PMID:16352729   PMID:16892066   PMID:17185339   PMID:17500595  
PMID:18240029   PMID:18262754   PMID:18407463   PMID:18953495   PMID:19497306   PMID:19666700   PMID:20097574   PMID:20360068   PMID:20379614   PMID:20602615   PMID:20829352   PMID:21511947  
PMID:21873635   PMID:22562654   PMID:23824909   PMID:23984917   PMID:23993195   PMID:24366063   PMID:24549219   PMID:24982418   PMID:25014031   PMID:25177240   PMID:25281560   PMID:25533962  
PMID:25921289   PMID:25966631   PMID:26043775   PMID:26060304   PMID:26186194   PMID:26344197   PMID:26349500   PMID:26368330   PMID:26485252   PMID:26496610   PMID:26638075   PMID:27342126  
PMID:27515449   PMID:28202424   PMID:28357411   PMID:28514442   PMID:28628939   PMID:28747448   PMID:29507755   PMID:29709639   PMID:30103967   PMID:31501420   PMID:31505435   PMID:31536960  
PMID:31586073   PMID:32056211   PMID:32505358   PMID:32687490   PMID:32814053   PMID:32898863   PMID:33107105   PMID:33408414   PMID:33442900   PMID:33961781   PMID:34685729   PMID:34709727  
PMID:34900204   PMID:35271311   PMID:35292727   PMID:35676659   PMID:35722775   PMID:36597993   PMID:36634849   PMID:36964488   PMID:36980817   PMID:37034444   PMID:37225406   PMID:37887313  
PMID:37956232  


Genomics

Comparative Map Data
GNAO1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381656,191,489 - 56,357,444 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1656,191,390 - 56,357,444 (+)EnsemblGRCh38hg38GRCh38
GRCh371656,225,401 - 56,391,356 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361654,783,649 - 54,948,651 (+)NCBINCBI36Build 36hg18NCBI36
Build 341654,783,648 - 54,935,363NCBI
Celera1640,722,067 - 40,888,176 (+)NCBICelera
Cytogenetic Map16q13NCBI
HuRef1642,096,140 - 42,261,995 (+)NCBIHuRef
CHM1_11657,632,612 - 57,798,711 (+)NCBICHM1_1
T2T-CHM13v2.01661,986,534 - 62,152,480 (+)NCBIT2T-CHM13v2.0
Gnao1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39894,537,213 - 94,696,016 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl894,536,594 - 94,696,016 (+)EnsemblGRCm39 Ensembl
GRCm38893,810,153 - 93,969,388 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl893,809,966 - 93,969,388 (+)EnsemblGRCm38mm10GRCm38
MGSCv37896,334,738 - 96,493,288 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36896,700,050 - 96,858,087 (+)NCBIMGSCv36mm8
Celera898,140,645 - 98,299,435 (+)NCBICelera
Cytogenetic Map8C5NCBI
cM Map845.94NCBI
Gnao1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81911,040,788 - 11,198,437 (-)NCBIGRCr8
mRatBN7.21911,034,874 - 11,192,531 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1911,035,956 - 11,192,493 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1911,003,977 - 11,161,720 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01911,769,148 - 11,926,880 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01911,056,156 - 11,213,897 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01911,513,201 - 11,669,578 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1911,513,201 - 11,669,578 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01911,487,578 - 11,643,367 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41911,472,083 - 11,623,600 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11911,476,908 - 11,628,426 (-)NCBI
Celera1910,919,521 - 11,074,052 (-)NCBICelera
Cytogenetic Map19p12NCBI
Gnao1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543314,004,813 - 14,172,707 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543314,004,813 - 14,170,631 (+)NCBIChiLan1.0ChiLan1.0
GNAO1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21865,669,503 - 65,839,209 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11671,588,239 - 71,758,365 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01636,473,852 - 36,643,789 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11655,606,920 - 55,776,619 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1655,606,920 - 55,776,619 (+)Ensemblpanpan1.1panPan2
GNAO1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1259,805,675 - 59,980,782 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl259,806,689 - 59,980,398 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha256,439,284 - 56,614,525 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0260,350,680 - 60,525,810 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl260,350,811 - 60,526,437 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1257,180,704 - 57,353,192 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0258,189,791 - 58,364,758 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0259,082,779 - 59,255,395 (-)NCBIUU_Cfam_GSD_1.0
Gnao1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934950,907,469 - 50,975,262 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364758,565,889 - 8,690,673 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364758,610,123 - 8,681,606 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GNAO1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl629,416,708 - 29,592,516 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1629,416,574 - 29,592,874 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2626,756,513 - 26,788,415 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GNAO1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1542,105,295 - 42,272,573 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl542,105,334 - 42,273,059 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604734,092,746 - 34,260,108 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gnao1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624757178,616 - 346,443 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GNAO1
373 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020988.3(GNAO1):c.162-48A>G single nucleotide variant not provided [RCV001581961] Chr16:56275883 [GRCh38]
Chr16:56309795 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.27G>A (p.Glu9=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001257074]|Inborn genetic diseases [RCV002316534]|not provided [RCV000585431] Chr16:56192262 [GRCh38]
Chr16:56226174 [GRCh37]
Chr16:16q13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020988.3(GNAO1):c.626G>T (p.Arg209Leu) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV000655933]|Early infantile epileptic encephalopathy with suppression bursts [RCV000699557] Chr16:56336763 [GRCh38]
Chr16:56370675 [GRCh37]
Chr16:16q13
pathogenic|likely pathogenic
NM_020988.3(GNAO1):c.136A>G (p.Lys46Glu) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV001580365] Chr16:56192591 [GRCh38]
Chr16:56226503 [GRCh37]
Chr16:16q13
likely pathogenic
NM_020988.3(GNAO1):c.811A>G (p.Lys271Glu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000525427]|Neurodevelopmental disorder with involuntary movements [RCV002281576] Chr16:56351471 [GRCh38]
Chr16:56385383 [GRCh37]
Chr16:16q13
likely pathogenic|uncertain significance
NM_020988.3(GNAO1):c.262A>G (p.Met88Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001314766]|not provided [RCV000519172] Chr16:56276031 [GRCh38]
Chr16:56309943 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.572_592del (p.Thr191_Phe197del) deletion Developmental and epileptic encephalopathy, 17 [RCV000056407] Chr16:56334828..56334848 [GRCh38]
Chr16:56368740..56368760 [GRCh37]
Chr16:16q13
pathogenic
NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg) single nucleotide variant Abnormality of the nervous system [RCV001814039]|Developmental and epileptic encephalopathy, 17 [RCV000056408]|Developmental and epileptic encephalopathy, 17 [RCV000762963]|Early infantile epileptic encephalopathy with suppression bursts [RCV000468248]|GNAO1-Related Condition [RCV003421966]|Microcephaly [RCV001252685]|Rare genetic intellectual disability [RCV001256978]|not provided [RCV000255097] Chr16:56336744 [GRCh38]
Chr16:56370656 [GRCh37]
Chr16:16q13
pathogenic|likely pathogenic
NM_020988.3(GNAO1):c.836T>A (p.Ile279Asn) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV000056405] Chr16:56351496 [GRCh38]
Chr16:56385408 [GRCh37]
Chr16:16q13
pathogenic
NM_020988.3(GNAO1):c.521A>G (p.Asp174Gly) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV000056406]|Neurodevelopmental disorder with involuntary movements [RCV002281559] Chr16:56334785 [GRCh38]
Chr16:56368697 [GRCh37]
Chr16:16q13
pathogenic
NM_020988.2(GNAO1):c.161+11830G>A single nucleotide variant Lung cancer [RCV000100013] Chr16:56204446 [GRCh38]
Chr16:56238358 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.612C>G (p.Gly204=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001493802] Chr16:56336749 [GRCh38]
Chr16:56370661 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.736G>A (p.Glu246Lys) single nucleotide variant Abnormality of the nervous system [RCV001814097]|Developmental and epileptic encephalopathy, 17 [RCV001808530]|Developmental delay [RCV001580372]|Early infantile epileptic encephalopathy with suppression bursts [RCV001857676]|Inborn genetic diseases [RCV000190803]|Neurodevelopmental disorder with involuntary movements [RCV000490631]|not provided [RCV000254701] Chr16:56351396 [GRCh38]
Chr16:56385308 [GRCh37]
Chr16:16q13
pathogenic|likely pathogenic|likely benign
NM_020988.3(GNAO1):c.626G>A (p.Arg209His) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001065368]|Inborn genetic diseases [RCV000190691]|Neurodevelopmental disorder with involuntary movements [RCV000490633]|not provided [RCV000255659] Chr16:56336763 [GRCh38]
Chr16:56370675 [GRCh37]
Chr16:16q13
pathogenic|uncertain significance
GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1 copy number loss See cases [RCV000133738] Chr16:55457477..63841622 [GRCh38]
Chr16:55491389..63875526 [GRCh37]
Chr16:54048890..62433027 [NCBI36]
Chr16:16q12.2-21
pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3
pathogenic
GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3 copy number gain See cases [RCV000143752] Chr16:49685521..68401712 [GRCh38]
Chr16:49719432..68435615 [GRCh37]
Chr16:48276933..66993116 [NCBI36]
Chr16:16q12.1-22.1
pathogenic
NM_020988.3(GNAO1):c.680C>T (p.Ala227Val) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV000193275]|Developmental and epileptic encephalopathy, 17 [RCV000762964]|Early infantile epileptic encephalopathy with suppression bursts [RCV000694174]|not provided [RCV000493045] Chr16:56336817 [GRCh38]
Chr16:56370729 [GRCh37]
Chr16:16q13
pathogenic|likely pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Ductal breast carcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3
uncertain significance
GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1 copy number loss Ductal breast carcinoma [RCV000207067] Chr16:55359026..70884455 [GRCh37]
Chr16:16q12.2-22.2
likely pathogenic|uncertain significance
NM_020988.3(GNAO1):c.133G>C (p.Gly45Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001378535]|Inborn genetic diseases [RCV000210693] Chr16:56192588 [GRCh38]
Chr16:56226500 [GRCh37]
Chr16:16q13
pathogenic|likely pathogenic
Single allele complex Ductal breast carcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3
uncertain significance
NM_020988.3(GNAO1):c.993C>T (p.Asn331=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000227908]|Inborn genetic diseases [RCV002311360]|not provided [RCV000517668] Chr16:56354981 [GRCh38]
Chr16:56388893 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.983A>G (p.Asp328Gly) single nucleotide variant not provided [RCV000224477] Chr16:56354971 [GRCh38]
Chr16:56388883 [GRCh37]
Chr16:16q13
likely pathogenic
NM_020988.3(GNAO1):c.75G>A (p.Glu25=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000233020]|not provided [RCV001555078] Chr16:56192310 [GRCh38]
Chr16:56226222 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.654C>T (p.Asp218=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000227315]|Inborn genetic diseases [RCV002317773]|not provided [RCV001668398] Chr16:56336791 [GRCh38]
Chr16:56370703 [GRCh37]
Chr16:16q13
benign|likely benign
NM_020988.3(GNAO1):c.550G>C (p.Gly184Arg) single nucleotide variant Inborn genetic diseases [RCV000623572] Chr16:56334814 [GRCh38]
Chr16:56368726 [GRCh37]
Chr16:16q13
likely pathogenic|uncertain significance
NM_020988.3(GNAO1):c.425A>G (p.Asn142Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000549440] Chr16:56328752 [GRCh38]
Chr16:56362664 [GRCh37]
Chr16:16q13
benign|uncertain significance
NM_020988.3(GNAO1):c.625C>T (p.Arg209Cys) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV001775107]|Early infantile epileptic encephalopathy with suppression bursts [RCV000475848]|GNAO1-Related Condition [RCV003401217]|Inborn genetic diseases [RCV000622320]|Movement disorder [RCV001003612]|Neurodevelopmental disorder with involuntary movements [RCV000490628]|not provided [RCV000256155] Chr16:56336762 [GRCh38]
Chr16:56370674 [GRCh37]
Chr16:16q13
pathogenic|likely pathogenic|likely benign
NM_020988.3(GNAO1):c.119G>A (p.Gly40Glu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002519057]|not provided [RCV000307507] Chr16:56192574 [GRCh38]
Chr16:56226486 [GRCh37]
Chr16:16q13
pathogenic|likely pathogenic
NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV001580368]|Early infantile epileptic encephalopathy with suppression bursts [RCV000702017]|Epileptic encephalopathy [RCV001003610]|not provided [RCV000486165] Chr16:56192353 [GRCh38]
Chr16:56226265 [GRCh37]
Chr16:16q13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_020988.3(GNAO1):c.118G>T (p.Gly40Trp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000688464]|not provided [RCV000403784] Chr16:56192353 [GRCh38]
Chr16:56226265 [GRCh37]
Chr16:16q13
pathogenic
NM_020988.3(GNAO1):c.724-8G>A single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV002466519]|Early infantile epileptic encephalopathy with suppression bursts [RCV001851316]|Inborn genetic diseases [RCV002526037]|Neurodevelopmental disorder with involuntary movements [RCV001291829]|not provided [RCV000489428] Chr16:56351376 [GRCh38]
Chr16:56385288 [GRCh37]
Chr16:16q13
pathogenic|likely pathogenic
NM_020988.3(GNAO1):c.158T>A (p.Met53Lys) single nucleotide variant not provided [RCV001546803] Chr16:56192613 [GRCh38]
Chr16:56226525 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.118+32G>C single nucleotide variant not provided [RCV001574257] Chr16:56192385 [GRCh38]
Chr16:56226297 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.683T>C (p.Leu228Pro) single nucleotide variant not provided [RCV000489921] Chr16:56336820 [GRCh38]
Chr16:56370732 [GRCh37]
Chr16:16q13
likely pathogenic
NM_020988.3(GNAO1):c.676_677del (p.Val226fs) microsatellite not provided [RCV000488348] Chr16:56336810..56336811 [GRCh38]
Chr16:56370722..56370723 [GRCh37]
Chr16:16q13
likely pathogenic
NM_020988.3(GNAO1):c.851T>C (p.Leu284Ser) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV000590935] Chr16:56351511 [GRCh38]
Chr16:56385423 [GRCh37]
Chr16:16q13
pathogenic
NM_020988.3(GNAO1):c.725A>C (p.Asn242Thr) single nucleotide variant not provided [RCV000488949] Chr16:56351385 [GRCh38]
Chr16:56385297 [GRCh37]
Chr16:16q13
pathogenic|likely pathogenic
NM_020988.3(GNAO1):c.116T>C (p.Leu39Pro) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001241780]|Inborn genetic diseases [RCV000623353] Chr16:56192351 [GRCh38]
Chr16:56226263 [GRCh37]
Chr16:16q13
likely pathogenic|uncertain significance
NM_020988.3(GNAO1):c.662C>A (p.Ala221Asp) single nucleotide variant Neurodevelopmental disorder with involuntary movements [RCV000626015] Chr16:56336799 [GRCh38]
Chr16:56370711 [GRCh37]
Chr16:16q13
likely pathogenic
NM_020988.3(GNAO1):c.620C>A (p.Ser207Tyr) single nucleotide variant not provided [RCV000414640] Chr16:56336757 [GRCh38]
Chr16:56370669 [GRCh37]
Chr16:16q13
pathogenic
NM_020988.3(GNAO1):c.817G>T (p.Asp273Tyr) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV001580370] Chr16:56351477 [GRCh38]
Chr16:56385389 [GRCh37]
Chr16:16q13
likely pathogenic
NM_020988.3(GNAO1):c.692A>G (p.Tyr231Cys) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV000414910]|Developmental and epileptic encephalopathy, 17 [RCV001580371]|not provided [RCV000657944] Chr16:56336829 [GRCh38]
Chr16:56370741 [GRCh37]
Chr16:16q13
pathogenic|likely pathogenic
NM_020988.3(GNAO1):c.21A>G (p.Ala7=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000534911] Chr16:56192256 [GRCh38]
Chr16:56226168 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.351C>T (p.Thr117=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000536082]|Inborn genetic diseases [RCV002316535] Chr16:56328678 [GRCh38]
Chr16:56362590 [GRCh37]
Chr16:16q13
likely benign
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_020988.3(GNAO1):c.871T>A (p.Tyr291Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001851218]|not provided [RCV000480846] Chr16:56351531 [GRCh38]
Chr16:56385443 [GRCh37]
Chr16:16q13
pathogenic|likely pathogenic
NM_020988.3(GNAO1):c.414A>G (p.Gln138=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001085748]|Inborn genetic diseases [RCV002311792]|not provided [RCV000711824] Chr16:56328741 [GRCh38]
Chr16:56362653 [GRCh37]
Chr16:16q13
benign|likely benign
NM_020988.3(GNAO1):c.921A>G (p.Gln307=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001080522]|Inborn genetic diseases [RCV002318559]|not provided [RCV000711828] Chr16:56354909 [GRCh38]
Chr16:56388821 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.386T>C (p.Met129Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000460108] Chr16:56328713 [GRCh38]
Chr16:56362625 [GRCh37]
Chr16:16q13
likely benign|uncertain significance
NM_020988.3(GNAO1):c.828C>T (p.Gly276=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000464048]|not provided [RCV001171913] Chr16:56351488 [GRCh38]
Chr16:56385400 [GRCh37]
Chr16:16q13
benign|likely benign
NM_020988.3(GNAO1):c.412C>G (p.Gln138Glu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000467995] Chr16:56328739 [GRCh38]
Chr16:56362651 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.687C>T (p.Ser229=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000475675]|Inborn genetic diseases [RCV002318560]|not provided [RCV001683520] Chr16:56336824 [GRCh38]
Chr16:56370736 [GRCh37]
Chr16:16q13
benign|likely benign
NM_020988.3(GNAO1):c.161+8C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001085369]|not provided [RCV000711823] Chr16:56192624 [GRCh38]
Chr16:56226536 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.709G>A (p.Glu237Lys) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV000762965]|Dyskinesia [RCV001003613]|Early infantile epileptic encephalopathy with suppression bursts [RCV001851189]|not provided [RCV000477989] Chr16:56336846 [GRCh38]
Chr16:56370758 [GRCh37]
Chr16:16q13
pathogenic|likely pathogenic
NM_020988.3(GNAO1):c.161+8C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001506583] Chr16:56192624 [GRCh38]
Chr16:56226536 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.649G>A (p.Glu217Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000806364]|not provided [RCV000498979] Chr16:56336786 [GRCh38]
Chr16:56370698 [GRCh37]
Chr16:16q13
pathogenic|likely pathogenic
NM_020988.3(GNAO1):c.143C>T (p.Thr48Ile) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV000499510]|Developmental and epileptic encephalopathy, 17 [RCV003458445]|Early infantile epileptic encephalopathy with suppression bursts [RCV002524192] Chr16:56192598 [GRCh38]
Chr16:56226510 [GRCh37]
Chr16:16q13
pathogenic|likely pathogenic|not provided
NM_020988.3(GNAO1):c.625C>G (p.Arg209Gly) single nucleotide variant Neurodevelopmental disorder with involuntary movements [RCV000490630] Chr16:56336762 [GRCh38]
Chr16:56370674 [GRCh37]
Chr16:16q13
pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3
uncertain significance
GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3 copy number gain See cases [RCV000511791] Chr16:34197492..64509054 [GRCh37]
Chr16:16p11.2-q21
pathogenic
NM_020988.3(GNAO1):c.737A>G (p.Glu246Gly) single nucleotide variant Neurodevelopmental disorder with involuntary movements [RCV000490634] Chr16:56351397 [GRCh38]
Chr16:56385309 [GRCh37]
Chr16:16q13
pathogenic
NM_020988.3(GNAO1):c.187G>A (p.Gly63Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636350] Chr16:56275956 [GRCh38]
Chr16:56309868 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.1017C>A (p.Val339=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636467]|Inborn genetic diseases [RCV002343243]|not provided [RCV001662679] Chr16:56355005 [GRCh38]
Chr16:56388917 [GRCh37]
Chr16:16q13
benign|likely benign
NM_020988.3(GNAO1):c.724-9C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636493]|not provided [RCV001712728] Chr16:56351375 [GRCh38]
Chr16:56385287 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.474C>T (p.Asp158=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636500]|not provided [RCV001692242] Chr16:56334738 [GRCh38]
Chr16:56368650 [GRCh37]
Chr16:16q13
benign|likely benign
NM_020988.3(GNAO1):c.119-5A>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001466154]|Inborn genetic diseases [RCV002334081] Chr16:56192569 [GRCh38]
Chr16:56226481 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.66C>T (p.Asn22=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636620] Chr16:56192301 [GRCh38]
Chr16:56226213 [GRCh37]
Chr16:16q13
likely benign
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_020988.3(GNAO1):c.338G>A (p.Arg113Gln) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636339] Chr16:56328665 [GRCh38]
Chr16:56362577 [GRCh37]
Chr16:16q13
benign|uncertain significance
NM_020988.3(GNAO1):c.604G>A (p.Val202Ile) single nucleotide variant GNAO1-Related Condition [RCV001731851]|Neurodevelopmental disorder with involuntary movements [RCV000656551]|not provided [RCV001756114] Chr16:56336741 [GRCh38]
Chr16:56370653 [GRCh37]
Chr16:16q13
likely pathogenic|uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
NM_020988.3(GNAO1):c.303+6C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000560065] Chr16:56276078 [GRCh38]
Chr16:56309990 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.38T>C (p.Leu13Pro) single nucleotide variant not provided [RCV000584858] Chr16:56192273 [GRCh38]
Chr16:56226185 [GRCh37]
Chr16:16q13
likely pathogenic|uncertain significance
NM_020988.3(GNAO1):c.813G>C (p.Lys271Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636427] Chr16:56351473 [GRCh38]
Chr16:56385385 [GRCh37]
Chr16:16q13
likely pathogenic|uncertain significance
NM_020988.3(GNAO1):c.252C>T (p.Ile84=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636461]|not provided [RCV001584469] Chr16:56276021 [GRCh38]
Chr16:56309933 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.724-5C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636608] Chr16:56351379 [GRCh38]
Chr16:56385291 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.153G>A (p.Lys51=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000636586] Chr16:56192608 [GRCh38]
Chr16:56226520 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.723+6926G>C single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV000585823] Chr16:56343786 [GRCh38]
Chr16:56377698 [GRCh37]
Chr16:16q13
uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
NM_020988.3(GNAO1):c.119G>T (p.Gly40Val) single nucleotide variant Developmental and epileptic encephalopathy, 1 [RCV000714659]|Neurodevelopmental disorder with involuntary movements [RCV000714660] Chr16:56192574 [GRCh38]
Chr16:56226486 [GRCh37]
Chr16:16q13
likely pathogenic
GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3 copy number gain not provided [RCV000683820] Chr16:54416050..72453266 [GRCh37]
Chr16:16q12.2-22.2
pathogenic
GRCh37/hg19 16q12.2(chr16:56355238-56487629)x1 copy number loss not provided [RCV000683821] Chr16:56355238..56487629 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_020988.3(GNAO1):c.513C>T (p.Thr171=) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV001702549]|Early infantile epileptic encephalopathy with suppression bursts [RCV001510041]|Inborn genetic diseases [RCV002312248]|Neurodevelopmental disorder with involuntary movements [RCV001702550]|not provided [RCV000711825] Chr16:56334777 [GRCh38]
Chr16:56368689 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.286G>A (p.Gly96Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000691846]|Inborn genetic diseases [RCV002440453]|Intellectual disability [RCV001252009]|not provided [RCV001797128] Chr16:56276055 [GRCh38]
Chr16:56309967 [GRCh37]
Chr16:16q13
benign|likely benign|uncertain significance
NM_020988.3(GNAO1):c.768CAA[1] (p.Asn257del) microsatellite Early infantile epileptic encephalopathy with suppression bursts [RCV000689860] Chr16:56351426..56351428 [GRCh38]
Chr16:56385338..56385340 [GRCh37]
Chr16:16q13
likely benign|uncertain significance
NM_020988.3(GNAO1):c.723+4020A>G single nucleotide variant Inborn genetic diseases [RCV002532918]|not provided [RCV000711826] Chr16:56340880 [GRCh38]
Chr16:56374792 [GRCh37]
Chr16:16q13
benign|likely benign
NM_020988.3(GNAO1):c.723+4099G>A single nucleotide variant not provided [RCV000711827] Chr16:56340959 [GRCh38]
Chr16:56374871 [GRCh37]
Chr16:16q13
benign|likely benign
NM_020988.3(GNAO1):c.723+6976A>G single nucleotide variant not provided [RCV000711829] Chr16:56343836 [GRCh38]
Chr16:56377748 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.1014C>T (p.Ala338=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002534578]|Inborn genetic diseases [RCV002317988]|not provided [RCV003456425] Chr16:56355002 [GRCh38]
Chr16:56388914 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.333G>A (p.Val111=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001502195]|Inborn genetic diseases [RCV002318113] Chr16:56328660 [GRCh38]
Chr16:56362572 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.678C>T (p.Val226=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001452843]|Inborn genetic diseases [RCV002318286] Chr16:56336815 [GRCh38]
Chr16:56370727 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.354G>T (p.Glu118Asp) single nucleotide variant Inborn genetic diseases [RCV002318219] Chr16:56328681 [GRCh38]
Chr16:56362593 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.520G>A (p.Asp174Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002534983]|Inborn genetic diseases [RCV002318276] Chr16:56334784 [GRCh38]
Chr16:56368696 [GRCh37]
Chr16:16q13
likely pathogenic|uncertain significance
NM_020988.3(GNAO1):c.156G>A (p.Gln52=) single nucleotide variant Inborn genetic diseases [RCV002318172] Chr16:56192611 [GRCh38]
Chr16:56226523 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.274G>A (p.Gly92Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002060950]|Inborn genetic diseases [RCV002318267] Chr16:56276043 [GRCh38]
Chr16:56309955 [GRCh37]
Chr16:16q13
benign|uncertain significance
NC_000016.10:g.56191213G>C single nucleotide variant not provided [RCV001565603] Chr16:56191213 [GRCh38]
Chr16:56225125 [GRCh37]
Chr16:16q13
likely benign
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
Single allele duplication not provided [RCV001542388] Chr16:46385317..61223349 [GRCh38]
Chr16:16q11.2-21
pathogenic
NM_020988.3(GNAO1):c.450C>T (p.Asn150=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001510389]|not provided [RCV000977587] Chr16:56328777 [GRCh38]
Chr16:56362689 [GRCh37]
Chr16:16q13
benign|likely benign
NM_020988.3(GNAO1):c.723+6824C>T single nucleotide variant not provided [RCV001534571] Chr16:56343684 [GRCh38]
Chr16:56377596 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.723+156G>A single nucleotide variant not provided [RCV001586303] Chr16:56337016 [GRCh38]
Chr16:56370928 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.186C>T (p.Ser62=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000860989]|not provided [RCV001534068] Chr16:56275955 [GRCh38]
Chr16:56309867 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.660G>A (p.Thr220=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000861245]|Inborn genetic diseases [RCV002372394]|not provided [RCV001672964] Chr16:56336797 [GRCh38]
Chr16:56370709 [GRCh37]
Chr16:16q13
benign|likely benign
NM_020988.3(GNAO1):c.878-7G>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001466308] Chr16:56354859 [GRCh38]
Chr16:56388771 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.465-158G>A single nucleotide variant not provided [RCV001551456] Chr16:56334571 [GRCh38]
Chr16:56368483 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.451G>A (p.Asp151Asn) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV000989603] Chr16:56328778 [GRCh38]
Chr16:56362690 [GRCh37]
Chr16:16q13
likely pathogenic
NM_020988.3(GNAO1):c.607G>C (p.Gly203Arg) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV000989604] Chr16:56336744 [GRCh38]
Chr16:56370656 [GRCh37]
Chr16:16q13
pathogenic
NM_020988.3(GNAO1):c.897C>T (p.Asp299=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000877148] Chr16:56354885 [GRCh38]
Chr16:56388797 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.118+8C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000866685] Chr16:56192361 [GRCh38]
Chr16:56226273 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.132A>G (p.Ser44=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001399307] Chr16:56192587 [GRCh38]
Chr16:56226499 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.870A>G (p.Glu290=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000867707] Chr16:56351530 [GRCh38]
Chr16:56385442 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.417G>A (p.Glu139=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000928241]|Inborn genetic diseases [RCV002332899] Chr16:56328744 [GRCh38]
Chr16:56362656 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.877+7G>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001428345] Chr16:56351544 [GRCh38]
Chr16:56385456 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.735C>T (p.His245=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000863945] Chr16:56351395 [GRCh38]
Chr16:56385307 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.465-3C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002549934]|not provided [RCV000996276] Chr16:56334726 [GRCh38]
Chr16:56368638 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.856A>T (p.Ile286Phe) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV002482009]|Early infantile epileptic encephalopathy with suppression bursts [RCV001056053] Chr16:56351516 [GRCh38]
Chr16:56385428 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.731T>A (p.Met244Lys) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV001089718] Chr16:56351391 [GRCh38]
Chr16:56385303 [GRCh37]
Chr16:16q13
likely pathogenic
NM_020988.3(GNAO1):c.495C>T (p.Ala165=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001495194]|Inborn genetic diseases [RCV002336771]|not provided [RCV003424390] Chr16:56334759 [GRCh38]
Chr16:56368671 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.593+10A>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000982720] Chr16:56334867 [GRCh38]
Chr16:56368779 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.681G>A (p.Ala227=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000869284] Chr16:56336818 [GRCh38]
Chr16:56370730 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.606C>T (p.Val202=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000868057]|Inborn genetic diseases [RCV002352550]|not provided [RCV001546220] Chr16:56336743 [GRCh38]
Chr16:56370655 [GRCh37]
Chr16:16q13
likely benign
GRCh37/hg19 16q12.2(chr16:55103496-56391061)x1 copy number loss Global developmental delay [RCV002284257] Chr16:55103496..56391061 [GRCh37]
Chr16:16q12.2
pathogenic
NM_020988.3(GNAO1):c.746T>C (p.Met249Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000818232] Chr16:56351406 [GRCh38]
Chr16:56385318 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.809A>C (p.Asn270Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000792659] Chr16:56351469 [GRCh38]
Chr16:56385381 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.397G>A (p.Gly133Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000797207]|Inborn genetic diseases [RCV002352336]|not provided [RCV003130045] Chr16:56328724 [GRCh38]
Chr16:56362636 [GRCh37]
Chr16:16q13
benign|likely benign|uncertain significance
NM_020988.3(GNAO1):c.397G>C (p.Gly133Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000820996] Chr16:56328724 [GRCh38]
Chr16:56362636 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.389G>A (p.Arg130Gln) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000814095]|Inborn genetic diseases [RCV002363114] Chr16:56328716 [GRCh38]
Chr16:56362628 [GRCh37]
Chr16:16q13
likely benign|uncertain significance
NM_020988.3(GNAO1):c.140G>A (p.Ser47Asn) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV002272357]|Early infantile epileptic encephalopathy with suppression bursts [RCV000794940] Chr16:56192595 [GRCh38]
Chr16:56226507 [GRCh37]
Chr16:16q13
pathogenic|likely pathogenic
NM_020988.3(GNAO1):c.736G>C (p.Glu246Gln) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV000850558] Chr16:56351396 [GRCh38]
Chr16:56385308 [GRCh37]
Chr16:16q13
likely pathogenic
NM_020988.3(GNAO1):c.118G>A (p.Gly40Arg) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV000824830] Chr16:56192353 [GRCh38]
Chr16:56226265 [GRCh37]
Chr16:16q13
likely pathogenic
NM_020988.3(GNAO1):c.354G>C (p.Glu118Asp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000818944] Chr16:56328681 [GRCh38]
Chr16:56362593 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.1020C>T (p.Thr340=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000864106]|Inborn genetic diseases [RCV002381925] Chr16:56355008 [GRCh38]
Chr16:56388920 [GRCh37]
Chr16:16q13
likely benign
GRCh37/hg19 16q12.2-21(chr16:53455650-64006604)x3 copy number gain not provided [RCV000848548] Chr16:53455650..64006604 [GRCh37]
Chr16:16q12.2-21
uncertain significance
NM_020988.3(GNAO1):c.818A>T (p.Asp273Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001068363] Chr16:56351478 [GRCh38]
Chr16:56385390 [GRCh37]
Chr16:16q13
pathogenic|uncertain significance
NM_020988.3(GNAO1):c.754G>A (p.Asp252Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001239089] Chr16:56351414 [GRCh38]
Chr16:56385326 [GRCh37]
Chr16:16q13
likely benign|uncertain significance
NM_020988.3(GNAO1):c.655G>A (p.Val219Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001222769] Chr16:56336792 [GRCh38]
Chr16:56370704 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.830AGA[1] (p.Lys278del) microsatellite Early infantile epileptic encephalopathy with suppression bursts [RCV001065180] Chr16:56351490..56351492 [GRCh38]
Chr16:56385402..56385404 [GRCh37]
Chr16:16q13
pathogenic|uncertain significance
NM_020988.3(GNAO1):c.894A>T (p.Glu298Asp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001235993] Chr16:56354882 [GRCh38]
Chr16:56388794 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.723+4106A>G single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV001196661] Chr16:56340966 [GRCh38]
Chr16:56374878 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.143C>A (p.Thr48Asn) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV000989602]|Early infantile epileptic encephalopathy with suppression bursts [RCV002549730] Chr16:56192598 [GRCh38]
Chr16:56226510 [GRCh37]
Chr16:16q13
likely pathogenic
NM_020988.3(GNAO1):c.263T>G (p.Met88Arg) single nucleotide variant not provided [RCV000996275] Chr16:56276032 [GRCh38]
Chr16:56309944 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.17G>T (p.Ser6Ile) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV003230749] Chr16:56192252 [GRCh38]
Chr16:56226164 [GRCh37]
Chr16:16q13
pathogenic
NM_020988.3(GNAO1):c.465-146T>C single nucleotide variant not provided [RCV001642192] Chr16:56334583 [GRCh38]
Chr16:56368495 [GRCh37]
Chr16:16q13
benign
NR_027078.2(GNAO1-DT):n.67C>T single nucleotide variant not provided [RCV001572116] Chr16:56191028 [GRCh38]
Chr16:56224940 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.304-105T>C single nucleotide variant not provided [RCV001552153] Chr16:56328526 [GRCh38]
Chr16:56362438 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.*28+45AC[21] microsatellite not provided [RCV001684214] Chr16:56355125..56355126 [GRCh38]
Chr16:56389037..56389038 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.161+111CA[14] microsatellite not provided [RCV001690550] Chr16:56192726..56192727 [GRCh38]
Chr16:56226638..56226639 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.304-212A>G single nucleotide variant not provided [RCV001576300] Chr16:56328419 [GRCh38]
Chr16:56362331 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.723+4358T>G single nucleotide variant not provided [RCV001550358] Chr16:56341218 [GRCh38]
Chr16:56375130 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.723+4327A>G single nucleotide variant not provided [RCV001615516] Chr16:56341187 [GRCh38]
Chr16:56375099 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.724-7163C>A single nucleotide variant not provided [RCV001550545] Chr16:56344221 [GRCh38]
Chr16:56378133 [GRCh37]
Chr16:16q13
likely benign
NC_000016.10:g.56191219G>T single nucleotide variant not provided [RCV001688713] Chr16:56191219 [GRCh38]
Chr16:56225131 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.723+7134G>A single nucleotide variant not provided [RCV001550790] Chr16:56343994 [GRCh38]
Chr16:56377906 [GRCh37]
Chr16:16q13
likely benign
NC_000016.10:g.56191124G>A single nucleotide variant not provided [RCV001639787] Chr16:56191124 [GRCh38]
Chr16:56225036 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.723+7136C>T single nucleotide variant not provided [RCV001685664] Chr16:56343996 [GRCh38]
Chr16:56377908 [GRCh37]
Chr16:16q13
benign
NC_000016.10:g.56191113G>A single nucleotide variant not provided [RCV001691687] Chr16:56191113 [GRCh38]
Chr16:56225025 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.687C>G (p.Ser229Arg) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV001580366]|Developmental and epileptic encephalopathy, 17 [RCV003326148] Chr16:56336824 [GRCh38]
Chr16:56370736 [GRCh37]
Chr16:16q13
likely pathogenic
NM_020988.3(GNAO1):c.810C>A (p.Asn270Lys) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV001580369] Chr16:56351470 [GRCh38]
Chr16:56385382 [GRCh37]
Chr16:16q13
likely pathogenic
NM_020988.3(GNAO1):c.195C>T (p.Asp65=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000865084]|not provided [RCV001815486] Chr16:56275964 [GRCh38]
Chr16:56309876 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.36C>T (p.Ala12=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000977991] Chr16:56192271 [GRCh38]
Chr16:56226183 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.783C>T (p.Ile261=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001481832] Chr16:56351443 [GRCh38]
Chr16:56385355 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.724-4G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV000980094] Chr16:56351380 [GRCh38]
Chr16:56385292 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.987G>A (p.Thr329=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001393039] Chr16:56354975 [GRCh38]
Chr16:56388887 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.330G>C (p.Val110=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001440859] Chr16:56328657 [GRCh38]
Chr16:56362569 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.58G>A (p.Glu20Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001217249]|Inborn genetic diseases [RCV002562424] Chr16:56192293 [GRCh38]
Chr16:56226205 [GRCh37]
Chr16:16q13
likely pathogenic|uncertain significance
NM_020988.3(GNAO1):c.527_528delinsAA (p.Leu176Gln) indel Early infantile epileptic encephalopathy with suppression bursts [RCV001224759] Chr16:56334791..56334792 [GRCh38]
Chr16:56368703..56368704 [GRCh37]
Chr16:16q13
likely pathogenic|uncertain significance
NM_020988.3(GNAO1):c.496G>A (p.Ala166Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001229411]|not provided [RCV001574238] Chr16:56334760 [GRCh38]
Chr16:56368672 [GRCh37]
Chr16:16q13
benign|likely benign|uncertain significance
NM_020988.3(GNAO1):c.793A>G (p.Ile265Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001034087] Chr16:56351453 [GRCh38]
Chr16:56385365 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.282A>G (p.Glu94=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001221682] Chr16:56276051 [GRCh38]
Chr16:56309963 [GRCh37]
Chr16:16q13
likely benign|uncertain significance
NM_020988.3(GNAO1):c.118+52C>G single nucleotide variant not provided [RCV001558748] Chr16:56192405 [GRCh38]
Chr16:56226317 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.161+109_161+110dup duplication not provided [RCV001662897] Chr16:56192723..56192724 [GRCh38]
Chr16:56226635..56226636 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.723+4413T>C single nucleotide variant not provided [RCV001586753] Chr16:56341273 [GRCh38]
Chr16:56375185 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.593+114G>A single nucleotide variant not provided [RCV001555130] Chr16:56334971 [GRCh38]
Chr16:56368883 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.284A>G (p.Tyr95Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002568490]|not provided [RCV001576518] Chr16:56276053 [GRCh38]
Chr16:56309965 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.*28+127TA[12] microsatellite not provided [RCV001671662] Chr16:56355207..56355208 [GRCh38]
Chr16:56389119..56389120 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.723+6642_723+6643dup duplication not provided [RCV001538251] Chr16:56343487..56343488 [GRCh38]
Chr16:56377399..56377400 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.878-297A>G single nucleotide variant not provided [RCV001713999] Chr16:56354569 [GRCh38]
Chr16:56388481 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.723+6641_723+6643dup duplication not provided [RCV001674838] Chr16:56343487..56343488 [GRCh38]
Chr16:56377399..56377400 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.*28+45AC[20] microsatellite not provided [RCV001621691] Chr16:56355125..56355126 [GRCh38]
Chr16:56389037..56389038 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.723+3765C>T single nucleotide variant not provided [RCV001590655] Chr16:56340625 [GRCh38]
Chr16:56374537 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.593+117C>T single nucleotide variant not provided [RCV001617958] Chr16:56334974 [GRCh38]
Chr16:56368886 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.303+190dup duplication not provided [RCV001658835] Chr16:56276261..56276262 [GRCh38]
Chr16:56310173..56310174 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.448A>C (p.Asn150His) single nucleotide variant Inborn genetic diseases [RCV003259134]|Neurodevelopmental disorder with involuntary movements [RCV003339523]|not provided [RCV001169954]|not specified [RCV002249751] Chr16:56328775 [GRCh38]
Chr16:56362687 [GRCh37]
Chr16:16q13
likely pathogenic|uncertain significance
NM_020988.3(GNAO1):c.470T>C (p.Leu157Pro) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV001580367] Chr16:56334734 [GRCh38]
Chr16:56368646 [GRCh37]
Chr16:16q13
likely pathogenic
NM_020988.3(GNAO1):c.723+3851C>A single nucleotide variant not provided [RCV001590166] Chr16:56340711 [GRCh38]
Chr16:56374623 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.723+3697_723+3706del deletion not provided [RCV001616664] Chr16:56340554..56340563 [GRCh38]
Chr16:56374466..56374475 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.465-140C>T single nucleotide variant not provided [RCV001679793] Chr16:56334589 [GRCh38]
Chr16:56368501 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.464+178A>C single nucleotide variant not provided [RCV001667036] Chr16:56328969 [GRCh38]
Chr16:56362881 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.877+123A>T single nucleotide variant not provided [RCV001691167] Chr16:56351660 [GRCh38]
Chr16:56385572 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.593+48C>T single nucleotide variant not provided [RCV001584609] Chr16:56334905 [GRCh38]
Chr16:56368817 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.*28+45AC[16] microsatellite not provided [RCV001708606] Chr16:56355125..56355126 [GRCh38]
Chr16:56389037..56389038 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.*28+45AC[19] microsatellite not provided [RCV001534032] Chr16:56355125..56355126 [GRCh38]
Chr16:56389037..56389038 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.*28+127TA[11] microsatellite not provided [RCV001670199] Chr16:56355207..56355208 [GRCh38]
Chr16:56389119..56389120 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.*28+45AC[17] microsatellite not provided [RCV001696404] Chr16:56355125..56355126 [GRCh38]
Chr16:56389037..56389038 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.*28+45AC[14] microsatellite not provided [RCV001612439] Chr16:56355126..56355127 [GRCh38]
Chr16:56389038..56389039 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.161+111CA[11] microsatellite not provided [RCV001648621] Chr16:56192727..56192728 [GRCh38]
Chr16:56226639..56226640 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.723+3914C>T single nucleotide variant not provided [RCV001539211] Chr16:56340774 [GRCh38]
Chr16:56374686 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.161+111CA[13] microsatellite not provided [RCV001652484] Chr16:56192726..56192727 [GRCh38]
Chr16:56226638..56226639 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.545C>T (p.Thr182Ile) single nucleotide variant Dyskinesia [RCV001003611] Chr16:56334809 [GRCh38]
Chr16:56368721 [GRCh37]
Chr16:16q13
likely pathogenic
NM_020988.3(GNAO1):c.723+1G>A single nucleotide variant Choreoathetosis [RCV001003614]|Early infantile epileptic encephalopathy with suppression bursts [RCV001862728]|Inborn genetic diseases [RCV001267357] Chr16:56336861 [GRCh38]
Chr16:56370773 [GRCh37]
Chr16:16q13
pathogenic
NC_000016.10:g.(?_56328611)_(56343970_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001032047] Chr16:56362523..56377882 [GRCh37]
Chr16:16q12.2
pathogenic|uncertain significance
NM_020988.3(GNAO1):c.884A>G (p.Asn295Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001054911]|not provided [RCV001759996] Chr16:56354872 [GRCh38]
Chr16:56388784 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.318G>C (p.Met106Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001232778] Chr16:56328645 [GRCh38]
Chr16:56362557 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.509C>G (p.Pro170Arg) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV001004674] Chr16:56334773 [GRCh38]
Chr16:56368685 [GRCh37]
Chr16:16q13
likely pathogenic
NM_020988.3(GNAO1):c.973T>G (p.Cys325Gly) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV001252010] Chr16:56354961 [GRCh38]
Chr16:56388873 [GRCh37]
Chr16:16q13
likely pathogenic|uncertain significance
NM_020988.3(GNAO1):c.428G>A (p.Arg143Gln) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV001253688]|Early infantile epileptic encephalopathy with suppression bursts [RCV001879874]|Inborn genetic diseases [RCV003365295]|not provided [RCV003222278] Chr16:56328755 [GRCh38]
Chr16:56362667 [GRCh37]
Chr16:16q13
likely benign|uncertain significance
NM_020988.3(GNAO1):c.1030_1032del (p.Ile344del) deletion Inborn genetic diseases [RCV001266674] Chr16:56355018..56355020 [GRCh38]
Chr16:56388930..56388932 [GRCh37]
Chr16:16q13
likely pathogenic
NM_020988.3(GNAO1):c.593+6G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001301360] Chr16:56334863 [GRCh38]
Chr16:56368775 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.303+6C>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001300686] Chr16:56276078 [GRCh38]
Chr16:56309990 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.121G>A (p.Ala41Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001315691] Chr16:56192576 [GRCh38]
Chr16:56226488 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.129A>G (p.Glu43=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001415139] Chr16:56192584 [GRCh38]
Chr16:56226496 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.388C>T (p.Arg130Trp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001361312] Chr16:56328715 [GRCh38]
Chr16:56362627 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.759dup (p.Ile254fs) duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001315820] Chr16:56351417..56351418 [GRCh38]
Chr16:56385329..56385330 [GRCh37]
Chr16:16q13
pathogenic|uncertain significance
NM_020988.3(GNAO1):c.117C>T (p.Leu39=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001297531] Chr16:56192352 [GRCh38]
Chr16:56226264 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.723+2T>A single nucleotide variant Neurodevelopmental disorder with involuntary movements [RCV001374408] Chr16:56336862 [GRCh38]
Chr16:56370774 [GRCh37]
Chr16:16q13
pathogenic|likely pathogenic
NM_020988.3(GNAO1):c.89C>T (p.Ala30Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001365172] Chr16:56192324 [GRCh38]
Chr16:56226236 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.290A>G (p.Asp97Gly) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001365310]|not provided [RCV001732141] Chr16:56276059 [GRCh38]
Chr16:56309971 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.529C>T (p.Arg177Ter) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001324264]|not provided [RCV001587346] Chr16:56334793 [GRCh38]
Chr16:56368705 [GRCh37]
Chr16:16q13
pathogenic|uncertain significance
NM_020988.3(GNAO1):c.687C>A (p.Ser229Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001318085] Chr16:56336824 [GRCh38]
Chr16:56370736 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.1008C>T (p.Phe336=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001394694] Chr16:56354996 [GRCh38]
Chr16:56388908 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.938G>A (p.Arg313His) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001360567] Chr16:56354926 [GRCh38]
Chr16:56388838 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.904G>A (p.Ala302Thr) single nucleotide variant Seizure [RCV001507300] Chr16:56354892 [GRCh38]
Chr16:56388804 [GRCh37]
Chr16:16q13
likely benign|uncertain significance
NM_020988.3(GNAO1):c.304-10C>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001519106] Chr16:56328621 [GRCh38]
Chr16:56362533 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.465-4T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001479410] Chr16:56334725 [GRCh38]
Chr16:56368637 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.909C>T (p.Tyr303=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001452735] Chr16:56354897 [GRCh38]
Chr16:56388809 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.304-7C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001470320] Chr16:56328624 [GRCh38]
Chr16:56362536 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.603C>T (p.Asp201=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001493292] Chr16:56336740 [GRCh38]
Chr16:56370652 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.393C>G (p.Leu131=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001402034] Chr16:56328720 [GRCh38]
Chr16:56362632 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.24G>A (p.Glu8=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001407624] Chr16:56192259 [GRCh38]
Chr16:56226171 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.201A>G (p.Lys67=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001405626] Chr16:56275970 [GRCh38]
Chr16:56309882 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.174A>G (p.Glu58=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001445359] Chr16:56275943 [GRCh38]
Chr16:56309855 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.543A>G (p.Lys181=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001448103] Chr16:56334807 [GRCh38]
Chr16:56368719 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.54G>A (p.Ala18=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001411645]|not provided [RCV003313225] Chr16:56192289 [GRCh38]
Chr16:56226201 [GRCh37]
Chr16:16q13
likely benign|uncertain significance
NM_020988.3(GNAO1):c.714C>T (p.Asp238=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001402018] Chr16:56336851 [GRCh38]
Chr16:56370763 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.257G>A (p.Arg86Gln) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001502450] Chr16:56276026 [GRCh38]
Chr16:56309938 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.464+7G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001451032] Chr16:56328798 [GRCh38]
Chr16:56362710 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.723+6643dup duplication not provided [RCV001538934] Chr16:56343487..56343488 [GRCh38]
Chr16:56377399..56377400 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.399C>T (p.Gly133=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001512263]|Inborn genetic diseases [RCV002377888]|not provided [RCV003312003] Chr16:56328726 [GRCh38]
Chr16:56362638 [GRCh37]
Chr16:16q13
benign|likely benign
NM_020988.3(GNAO1):c.304-95C>T single nucleotide variant not provided [RCV001592769] Chr16:56328536 [GRCh38]
Chr16:56362448 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.464+22T>C single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV001703031]|Neurodevelopmental disorder with involuntary movements [RCV001703032]|not provided [RCV001649477] Chr16:56328813 [GRCh38]
Chr16:56362725 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.351C>G (p.Thr117=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001463983] Chr16:56328678 [GRCh38]
Chr16:56362590 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.593+18C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001518849]|not provided [RCV001673098] Chr16:56334875 [GRCh38]
Chr16:56368787 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.903C>T (p.Ala301=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001504910] Chr16:56354891 [GRCh38]
Chr16:56388803 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.117C>G (p.Leu39=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001514612] Chr16:56192352 [GRCh38]
Chr16:56226264 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.744C>T (p.Leu248=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001426916] Chr16:56351404 [GRCh38]
Chr16:56385316 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.343G>A (p.Glu115Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001522602] Chr16:56328670 [GRCh38]
Chr16:56362582 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.1015G>A (p.Val339Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002544059]|not provided [RCV001754808] Chr16:56355003 [GRCh38]
Chr16:56388915 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.844T>C (p.Ser282Pro) single nucleotide variant Neurodevelopmental disorder with involuntary movements [RCV001730048] Chr16:56351504 [GRCh38]
Chr16:56385416 [GRCh37]
Chr16:16q13
likely pathogenic
NM_020988.3(GNAO1):c.517C>T (p.Gln173Ter) single nucleotide variant not specified [RCV002247866] Chr16:56334781 [GRCh38]
Chr16:56368693 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.723+7070C>T single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV002227646] Chr16:56343930 [GRCh38]
Chr16:56377842 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.614A>C (p.Gln205Pro) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV002249062] Chr16:56336751 [GRCh38]
Chr16:56370663 [GRCh37]
Chr16:16q13
likely pathogenic
NM_020988.3(GNAO1):c.151A>G (p.Lys51Glu) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV001785369] Chr16:56192606 [GRCh38]
Chr16:56226518 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.723+275_723+277del microsatellite not provided [RCV001799921] Chr16:56337132..56337134 [GRCh38]
Chr16:56371044..56371046 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.145A>C (p.Ile49Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002304235]|not provided [RCV001769078] Chr16:56192600 [GRCh38]
Chr16:56226512 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.724-4958G>A single nucleotide variant not provided [RCV003238509] Chr16:56346426 [GRCh38]
Chr16:56380338 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.608G>A (p.Gly203Glu) single nucleotide variant not provided [RCV003238503] Chr16:56336745 [GRCh38]
Chr16:56370657 [GRCh37]
Chr16:16q13
pathogenic
NM_020988.3(GNAO1):c.708C>T (p.His236=) single nucleotide variant Inborn genetic diseases [RCV002361071]|not specified [RCV001822252] Chr16:56336845 [GRCh38]
Chr16:56370757 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.748C>T (p.Leu250Phe) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV002246525]|Neurodevelopmental disorder with involuntary movements [RCV001808238] Chr16:56351408 [GRCh38]
Chr16:56385320 [GRCh37]
Chr16:16q13
pathogenic|uncertain significance
NM_020988.3(GNAO1):c.499G>C (p.Asp167His) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV001809279] Chr16:56334763 [GRCh38]
Chr16:56368675 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.433C>T (p.Arg145Trp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001970896] Chr16:56328760 [GRCh38]
Chr16:56362672 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.596T>C (p.Leu199Pro) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001949659] Chr16:56336733 [GRCh38]
Chr16:56370645 [GRCh37]
Chr16:16q13
pathogenic
GRCh37/hg19 16q12.2(chr16:56269138-56618661) copy number gain not specified [RCV002052530] Chr16:56269138..56618661 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_020988.3(GNAO1):c.553A>G (p.Ile185Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001889947] Chr16:56334817 [GRCh38]
Chr16:56368729 [GRCh37]
Chr16:16q13
uncertain significance
NC_000016.9:g.(?_56226148)_(56310004_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001912949] Chr16:56226148..56310004 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_020988.3(GNAO1):c.138A>T (p.Lys46Asn) single nucleotide variant Neurodevelopmental disorder with involuntary movements [RCV001823038] Chr16:56192593 [GRCh38]
Chr16:56226505 [GRCh37]
Chr16:16q13
likely pathogenic
NM_020988.3(GNAO1):c.232A>C (p.Ile78Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001869809]|not provided [RCV001823341] Chr16:56276001 [GRCh38]
Chr16:56309913 [GRCh37]
Chr16:16q13
likely benign|uncertain significance
NM_020988.3(GNAO1):c.155A>G (p.Gln52Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001889307]|not provided [RCV002300618] Chr16:56192610 [GRCh38]
Chr16:56226522 [GRCh37]
Chr16:16q13
pathogenic|likely pathogenic|uncertain significance
NM_020988.3(GNAO1):c.617G>T (p.Arg206Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002002430] Chr16:56336754 [GRCh38]
Chr16:56370666 [GRCh37]
Chr16:16q13
pathogenic
NM_020988.3(GNAO1):c.813G>T (p.Lys271Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001941166] Chr16:56351473 [GRCh38]
Chr16:56385385 [GRCh37]
Chr16:16q13
pathogenic
NM_020988.3(GNAO1):c.267C>T (p.Asp89=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001942698] Chr16:56276036 [GRCh38]
Chr16:56309948 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.310G>A (p.Ala104Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001981789] Chr16:56328637 [GRCh38]
Chr16:56362549 [GRCh37]
Chr16:16q13
benign|uncertain significance
NC_000016.9:g.(?_56226148)_(56226548_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001958420] Chr16:56226148..56226548 [GRCh37]
Chr16:16q12.2
pathogenic|uncertain significance
NM_020988.3(GNAO1):c.1045C>T (p.Arg349Trp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001904169]|not provided [RCV003229063] Chr16:56355033 [GRCh38]
Chr16:56388945 [GRCh37]
Chr16:16q13
likely pathogenic|uncertain significance
NM_020988.3(GNAO1):c.413A>G (p.Gln138Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001979149] Chr16:56328740 [GRCh38]
Chr16:56362652 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.488T>C (p.Ile163Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001870384]|not provided [RCV003407846] Chr16:56334752 [GRCh38]
Chr16:56368664 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.428G>T (p.Arg143Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001973220] Chr16:56328755 [GRCh38]
Chr16:56362667 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.76G>A (p.Asp26Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002028794] Chr16:56192311 [GRCh38]
Chr16:56226223 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.479T>C (p.Leu160Pro) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV002503376]|Early infantile epileptic encephalopathy with suppression bursts [RCV001869943] Chr16:56334743 [GRCh38]
Chr16:56368655 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.464+2T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001976534] Chr16:56328793 [GRCh38]
Chr16:56362705 [GRCh37]
Chr16:16q13
likely pathogenic|uncertain significance
NM_020988.3(GNAO1):c.602A>T (p.Asp201Val) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001994745] Chr16:56336739 [GRCh38]
Chr16:56370651 [GRCh37]
Chr16:16q13
pathogenic
NM_020988.3(GNAO1):c.1023CAT[2] (p.Ile344del) microsatellite Early infantile epileptic encephalopathy with suppression bursts [RCV001972962]|not provided [RCV002274241] Chr16:56355011..56355013 [GRCh38]
Chr16:56388923..56388925 [GRCh37]
Chr16:16q13
pathogenic|likely pathogenic
NM_020988.3(GNAO1):c.124G>A (p.Gly42Arg) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV002246570]|Early infantile epileptic encephalopathy with suppression bursts [RCV001877856] Chr16:56192579 [GRCh38]
Chr16:56226491 [GRCh37]
Chr16:16q13
pathogenic
NM_020988.3(GNAO1):c.863T>C (p.Phe288Ser) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001958371] Chr16:56351523 [GRCh38]
Chr16:56385435 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.464+5G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001884568] Chr16:56328796 [GRCh38]
Chr16:56362708 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.303+4G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001977455] Chr16:56276076 [GRCh38]
Chr16:56309988 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.723G>A (p.Thr241=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV001900216] Chr16:56336860 [GRCh38]
Chr16:56370772 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.594-15C>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002207950]|not specified [RCV003226531] Chr16:56336716 [GRCh38]
Chr16:56370628 [GRCh37]
Chr16:16q13
likely benign|uncertain significance
NM_020988.3(GNAO1):c.119-17T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002209734] Chr16:56192557 [GRCh38]
Chr16:56226469 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.464+18C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002210411] Chr16:56328809 [GRCh38]
Chr16:56362721 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.161+12T>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002110105] Chr16:56192628 [GRCh38]
Chr16:56226540 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.161+17T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002073883] Chr16:56192633 [GRCh38]
Chr16:56226545 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.610G>C (p.Gly204Arg) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV002250020] Chr16:56336747 [GRCh38]
Chr16:56370659 [GRCh37]
Chr16:16q13
pathogenic
NM_020988.3(GNAO1):c.620C>T (p.Ser207Phe) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV002250021] Chr16:56336757 [GRCh38]
Chr16:56370669 [GRCh37]
Chr16:16q13
pathogenic
NM_020988.3(GNAO1):c.498C>T (p.Ala166=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002072425]|Inborn genetic diseases [RCV002337179] Chr16:56334762 [GRCh38]
Chr16:56368674 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.593+12A>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002106754] Chr16:56334869 [GRCh38]
Chr16:56368781 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.651G>C (p.Glu217Asp) single nucleotide variant not provided [RCV002224941] Chr16:56336788 [GRCh38]
Chr16:56370700 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.585C>T (p.Leu195=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002089895] Chr16:56334849 [GRCh38]
Chr16:56368761 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.464+19G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002210763] Chr16:56328810 [GRCh38]
Chr16:56362722 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.753C>T (p.Phe251=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002214644] Chr16:56351413 [GRCh38]
Chr16:56385325 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.119-10G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002211745] Chr16:56192564 [GRCh38]
Chr16:56226476 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.878-10C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002193576] Chr16:56354856 [GRCh38]
Chr16:56388768 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.204G>A (p.Gln68=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002206625] Chr16:56275973 [GRCh38]
Chr16:56309885 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.161+9C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002208296] Chr16:56192625 [GRCh38]
Chr16:56226537 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.33C>T (p.Ala11=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002115416] Chr16:56192268 [GRCh38]
Chr16:56226180 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.119-12G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002166252] Chr16:56192562 [GRCh38]
Chr16:56226474 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.936C>T (p.Asn312=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002192915] Chr16:56354924 [GRCh38]
Chr16:56388836 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.279C>T (p.Ile93=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002174104]|not provided [RCV003426358] Chr16:56276048 [GRCh38]
Chr16:56309960 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.593+14A>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002194809] Chr16:56334871 [GRCh38]
Chr16:56368783 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.540C>A (p.Val180=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002215496] Chr16:56334804 [GRCh38]
Chr16:56368716 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.1011C>T (p.Asp337=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002115452]|not provided [RCV003418380] Chr16:56354999 [GRCh38]
Chr16:56388911 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.464+14C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002150196] Chr16:56328805 [GRCh38]
Chr16:56362717 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.616C>A (p.Arg206=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002113779] Chr16:56336753 [GRCh38]
Chr16:56370665 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.261C>T (p.Ala87=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002079308] Chr16:56276030 [GRCh38]
Chr16:56309942 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.119-14C>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002101333] Chr16:56192560 [GRCh38]
Chr16:56226472 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.621T>G (p.Ser207=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002141943] Chr16:56336758 [GRCh38]
Chr16:56370670 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.723+11T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002182132] Chr16:56336871 [GRCh38]
Chr16:56370783 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.877+20G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002220931] Chr16:56351557 [GRCh38]
Chr16:56385469 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.825T>C (p.Phe275=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002163730] Chr16:56351485 [GRCh38]
Chr16:56385397 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.427C>T (p.Arg143Trp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002154993] Chr16:56328754 [GRCh38]
Chr16:56362666 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.549T>G (p.Thr183=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002082984] Chr16:56334813 [GRCh38]
Chr16:56368725 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.724-20C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002140901] Chr16:56351364 [GRCh38]
Chr16:56385276 [GRCh37]
Chr16:16q13
likely benign
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
NM_020988.3(GNAO1):c.464+15G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002155922] Chr16:56328806 [GRCh38]
Chr16:56362718 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.309C>T (p.Asp103=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002098979] Chr16:56328636 [GRCh38]
Chr16:56362548 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.593+17C>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002204839] Chr16:56334874 [GRCh38]
Chr16:56368786 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.161+13G>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002157401] Chr16:56192629 [GRCh38]
Chr16:56226541 [GRCh37]
Chr16:16q13
likely benign
NC_000016.9:g.(?_56226148)_(58768132_?)del deletion Bardet-Biedl syndrome [RCV003119976]|Early infantile epileptic encephalopathy with suppression bursts [RCV003109791] Chr16:56226148..58768132 [GRCh37]
Chr16:16q12.2-21
pathogenic
NM_020988.3(GNAO1):c.737A>T (p.Glu246Val) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV002249063] Chr16:56351397 [GRCh38]
Chr16:56385309 [GRCh37]
Chr16:16q13
likely pathogenic
NM_020988.3(GNAO1):c.170A>G (p.His57Arg) single nucleotide variant not provided [RCV003131049] Chr16:56275939 [GRCh38]
Chr16:56309851 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.115C>T (p.Leu39Phe) single nucleotide variant See cases [RCV002253122] Chr16:56192350 [GRCh38]
Chr16:56226262 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.304-19275T>C single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV002227719] Chr16:56309356 [GRCh38]
Chr16:56343268 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.119G>C (p.Gly40Ala) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV003230750] Chr16:56192574 [GRCh38]
Chr16:56226486 [GRCh37]
Chr16:16q13
pathogenic
NM_020988.3(GNAO1):c.789C>G (p.Thr263=) single nucleotide variant not provided [RCV002273430] Chr16:56351449 [GRCh38]
Chr16:56385361 [GRCh37]
Chr16:16q13
likely benign|uncertain significance
NM_020988.3(GNAO1):c.723+6965T>C single nucleotide variant not provided [RCV002276029] Chr16:56343825 [GRCh38]
Chr16:56377737 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.736_738delinsAAA (p.Glu246Lys) indel not provided [RCV002276030] Chr16:56351396..56351398 [GRCh38]
Chr16:56385308..56385310 [GRCh37]
Chr16:16q13
pathogenic
NM_020988.3(GNAO1):c.303+4852A>G single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV002266663] Chr16:56280924 [GRCh38]
Chr16:56314836 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.1008del (p.Phe336fs) deletion not provided [RCV002293807] Chr16:56354996 [GRCh38]
Chr16:56388908 [GRCh37]
Chr16:16q13
likely pathogenic|uncertain significance
Single allele deletion not provided [RCV002266766] Chr16:53818483..57631312 [GRCh38]
Chr16:16q12.2-21
pathogenic
NM_020988.3(GNAO1):c.982G>T (p.Asp328Tyr) single nucleotide variant Neurodevelopmental disorder with involuntary movements [RCV002287869] Chr16:56354970 [GRCh38]
Chr16:56388882 [GRCh37]
Chr16:16q13
likely pathogenic
NM_020988.3(GNAO1):c.939C>T (p.Arg313=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003095966]|not provided [RCV002262517] Chr16:56354927 [GRCh38]
Chr16:56388839 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.326A>T (p.Asp109Val) single nucleotide variant not provided [RCV002287089] Chr16:56328653 [GRCh38]
Chr16:56362565 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.751T>A (p.Phe251Ile) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV002290360] Chr16:56351411 [GRCh38]
Chr16:56385323 [GRCh37]
Chr16:16q13
likely pathogenic
NM_020988.3(GNAO1):c.723+6975A>G single nucleotide variant Neurodevelopmental disorder with involuntary movements [RCV002287224] Chr16:56343835 [GRCh38]
Chr16:56377747 [GRCh37]
Chr16:16q13
uncertain significance
GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3 copy number gain not provided [RCV002472562] Chr16:46503573..62203182 [GRCh37]
Chr16:16q11.2-21
pathogenic
NM_020988.3(GNAO1):c.358T>G (p.Phe120Val) single nucleotide variant not provided [RCV002473967] Chr16:56328685 [GRCh38]
Chr16:56362597 [GRCh37]
Chr16:16q13
uncertain significance
GRCh37/hg19 16q12.2(chr16:55723839-56330832)x3 copy number gain not provided [RCV002473483] Chr16:55723839..56330832 [GRCh37]
Chr16:16q12.2
uncertain significance
NM_020988.3(GNAO1):c.1021_1023del (p.Asp341del) deletion Developmental and epileptic encephalopathy, 17 [RCV002471735] Chr16:56355008..56355010 [GRCh38]
Chr16:56388920..56388922 [GRCh37]
Chr16:16q13
likely pathogenic
NM_020988.3(GNAO1):c.67C>T (p.Leu23Phe) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002300246] Chr16:56192302 [GRCh38]
Chr16:56226214 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.601G>T (p.Asp201Tyr) single nucleotide variant Inborn genetic diseases [RCV002358111] Chr16:56336738 [GRCh38]
Chr16:56370650 [GRCh37]
Chr16:16q13
likely pathogenic
NM_020988.3(GNAO1):c.830A>G (p.Glu277Gly) single nucleotide variant Inborn genetic diseases [RCV002430369] Chr16:56351490 [GRCh38]
Chr16:56385402 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.485G>T (p.Arg162Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002301800] Chr16:56334749 [GRCh38]
Chr16:56368661 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.388C>A (p.Arg130=) single nucleotide variant Inborn genetic diseases [RCV002357385] Chr16:56328715 [GRCh38]
Chr16:56362627 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.636G>T (p.Trp212Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002300136] Chr16:56336773 [GRCh38]
Chr16:56370685 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.286G>C (p.Gly96Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002299772] Chr16:56276055 [GRCh38]
Chr16:56309967 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.91G>T (p.Ala31Ser) single nucleotide variant Inborn genetic diseases [RCV002450058] Chr16:56192326 [GRCh38]
Chr16:56226238 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.723+4098C>A single nucleotide variant not provided [RCV002305878] Chr16:56340958 [GRCh38]
Chr16:56374870 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.694G>A (p.Asp232Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003099135]|not provided [RCV002308970] Chr16:56336831 [GRCh38]
Chr16:56370743 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.499G>A (p.Asp167Asn) single nucleotide variant Inborn genetic diseases [RCV002342996]|not provided [RCV003134429] Chr16:56334763 [GRCh38]
Chr16:56368675 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.155A>C (p.Gln52Pro) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003074982] Chr16:56192610 [GRCh38]
Chr16:56226522 [GRCh37]
Chr16:16q13
pathogenic
NM_020988.3(GNAO1):c.277A>G (p.Ile93Val) single nucleotide variant Inborn genetic diseases [RCV002859712] Chr16:56276046 [GRCh38]
Chr16:56309958 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.118+3A>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002881236] Chr16:56192356 [GRCh38]
Chr16:56226268 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.724-16C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002780069] Chr16:56351368 [GRCh38]
Chr16:56385280 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.759C>T (p.Ser253=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003032728] Chr16:56351419 [GRCh38]
Chr16:56385331 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.287G>C (p.Gly96Ala) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002726413] Chr16:56276056 [GRCh38]
Chr16:56309968 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.648C>T (p.Phe216=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003075758] Chr16:56336785 [GRCh38]
Chr16:56370697 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.944C>T (p.Pro315Leu) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002838238] Chr16:56354932 [GRCh38]
Chr16:56388844 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.338G>C (p.Arg113Pro) single nucleotide variant Inborn genetic diseases [RCV002817209] Chr16:56328665 [GRCh38]
Chr16:56362577 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.727C>T (p.Arg243Cys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002993556] Chr16:56351387 [GRCh38]
Chr16:56385299 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.119-18C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002907640] Chr16:56192556 [GRCh38]
Chr16:56226468 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.723+9C>T single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV003224641]|Early infantile epileptic encephalopathy with suppression bursts [RCV003081423] Chr16:56336869 [GRCh38]
Chr16:56370781 [GRCh37]
Chr16:16q13
likely benign|uncertain significance
NM_020988.3(GNAO1):c.720C>T (p.Thr240=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002868018] Chr16:56336857 [GRCh38]
Chr16:56370769 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.111C>T (p.Leu37=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002705306] Chr16:56192346 [GRCh38]
Chr16:56226258 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.842A>C (p.Lys281Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002622511] Chr16:56351502 [GRCh38]
Chr16:56385414 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.229A>G (p.Thr77Ala) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002736150] Chr16:56275998 [GRCh38]
Chr16:56309910 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.877+7G>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002846892] Chr16:56351544 [GRCh38]
Chr16:56385456 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.723+10C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003035973] Chr16:56336870 [GRCh38]
Chr16:56370782 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.723+14del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV003100492] Chr16:56336872 [GRCh38]
Chr16:56370784 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.275G>A (p.Gly92Asp) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003019904]|not provided [RCV003320909] Chr16:56276044 [GRCh38]
Chr16:56309956 [GRCh37]
Chr16:16q13
benign|uncertain significance
NM_020988.3(GNAO1):c.639C>A (p.Ile213=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002912946] Chr16:56336776 [GRCh38]
Chr16:56370688 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.492G>C (p.Gly164=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002820487] Chr16:56334756 [GRCh38]
Chr16:56368668 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.119-2_119-1del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV003043124] Chr16:56192572..56192573 [GRCh38]
Chr16:56226484..56226485 [GRCh37]
Chr16:16q13
likely pathogenic
NM_020988.3(GNAO1):c.723+4098C>T single nucleotide variant Inborn genetic diseases [RCV002986148] Chr16:56340958 [GRCh38]
Chr16:56374870 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.556G>A (p.Val186Ile) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002664059]|not provided [RCV003134680] Chr16:56334820 [GRCh38]
Chr16:56368732 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.161+16A>G single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002982421] Chr16:56192632 [GRCh38]
Chr16:56226544 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.960T>C (p.Tyr320=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002624513] Chr16:56354948 [GRCh38]
Chr16:56388860 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.877+19T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002957400] Chr16:56351556 [GRCh38]
Chr16:56385468 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.593+16G>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003083507] Chr16:56334873 [GRCh38]
Chr16:56368785 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.723+3985C>G single nucleotide variant Inborn genetic diseases [RCV002696815] Chr16:56340845 [GRCh38]
Chr16:56374757 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.888C>G (p.Thr296=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003057067] Chr16:56354876 [GRCh38]
Chr16:56388788 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.791C>T (p.Ser264Phe) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003022981] Chr16:56351451 [GRCh38]
Chr16:56385363 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.877+6T>C single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002852372] Chr16:56351543 [GRCh38]
Chr16:56385455 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.723+15C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003082828] Chr16:56336875 [GRCh38]
Chr16:56370787 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.911T>A (p.Ile304Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003028939] Chr16:56354899 [GRCh38]
Chr16:56388811 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.372G>C (p.Leu124=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002811606] Chr16:56328699 [GRCh38]
Chr16:56362611 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.425A>C (p.Asn142Thr) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003047566] Chr16:56328752 [GRCh38]
Chr16:56362664 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.530G>A (p.Arg177Gln) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002670808]|not provided [RCV003318729] Chr16:56334794 [GRCh38]
Chr16:56368706 [GRCh37]
Chr16:16q13
likely pathogenic|uncertain significance
NM_020988.3(GNAO1):c.485G>A (p.Arg162Gln) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002597942] Chr16:56334749 [GRCh38]
Chr16:56368661 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.118+20C>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003027995] Chr16:56192373 [GRCh38]
Chr16:56226285 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.321G>T (p.Val107=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002577531] Chr16:56328648 [GRCh38]
Chr16:56362560 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.56T>A (p.Ile19Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003027626] Chr16:56192291 [GRCh38]
Chr16:56226203 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.1021G>A (p.Asp341Asn) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002922760] Chr16:56355009 [GRCh38]
Chr16:56388921 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.327T>G (p.Asp109Glu) single nucleotide variant Inborn genetic diseases [RCV002723085] Chr16:56328654 [GRCh38]
Chr16:56362566 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.415G>A (p.Glu139Lys) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003051830] Chr16:56328742 [GRCh38]
Chr16:56362654 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.914A>G (p.Gln305Arg) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002814588] Chr16:56354902 [GRCh38]
Chr16:56388814 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.480G>A (p.Leu160=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV002676916] Chr16:56334744 [GRCh38]
Chr16:56368656 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.593+19C>A single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003066923] Chr16:56334876 [GRCh38]
Chr16:56368788 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.525C>T (p.Ile175=) single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003032116] Chr16:56334789 [GRCh38]
Chr16:56368701 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.986C>T (p.Thr329Met) single nucleotide variant not provided [RCV003154445] Chr16:56354974 [GRCh38]
Chr16:56388886 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.124G>C (p.Gly42Arg) single nucleotide variant Neurodevelopmental disorder with involuntary movements [RCV003223534] Chr16:56192579 [GRCh38]
Chr16:56226491 [GRCh37]
Chr16:16q13
pathogenic
NM_020988.3(GNAO1):c.617G>A (p.Arg206Gln) single nucleotide variant not provided [RCV003222874] Chr16:56336754 [GRCh38]
Chr16:56370666 [GRCh37]
Chr16:16q13
likely pathogenic
NM_020988.3(GNAO1):c.57T>G (p.Ile19Met) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV003224927]|Developmental and epileptic encephalopathy, 17 [RCV003224928] Chr16:56192292 [GRCh38]
Chr16:56226204 [GRCh37]
Chr16:16q13
likely pathogenic
NM_020988.3(GNAO1):c.1046G>A (p.Arg349Gln) single nucleotide variant not provided [RCV003329973] Chr16:56355034 [GRCh38]
Chr16:56388946 [GRCh37]
Chr16:16q13
likely pathogenic
NM_020988.3(GNAO1):c.594G>T (p.Arg198Ser) single nucleotide variant not provided [RCV003325817] Chr16:56336731 [GRCh38]
Chr16:56370643 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.723+1G>T single nucleotide variant not provided [RCV003325916] Chr16:56336861 [GRCh38]
Chr16:56370773 [GRCh37]
Chr16:16q13
pathogenic
NM_020988.3(GNAO1):c.4G>C (p.Gly2Arg) single nucleotide variant Neurodevelopmental disorder with involuntary movements [RCV003335829] Chr16:56192239 [GRCh38]
Chr16:56226151 [GRCh37]
Chr16:16q13
likely pathogenic
NM_020988.3(GNAO1):c.723+3977C>T single nucleotide variant GNAO1-Related Condition [RCV003394334] Chr16:56340837 [GRCh38]
Chr16:56374749 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.723+6925C>T single nucleotide variant not provided [RCV003419334] Chr16:56343785 [GRCh38]
Chr16:56377697 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.616C>G (p.Arg206Gly) single nucleotide variant Movement disorder [RCV003484997] Chr16:56336753 [GRCh38]
Chr16:56370665 [GRCh37]
Chr16:16q13
likely pathogenic
NM_020988.3(GNAO1):c.256C>T (p.Arg86Trp) single nucleotide variant not provided [RCV003442282] Chr16:56276025 [GRCh38]
Chr16:56309937 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.161+20682C>T single nucleotide variant not provided [RCV003426711] Chr16:56213298 [GRCh38]
Chr16:56247210 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.723+6946G>A single nucleotide variant not provided [RCV003419335] Chr16:56343806 [GRCh38]
Chr16:56377718 [GRCh37]
Chr16:16q13
likely benign
NM_020988.3(GNAO1):c.161+20757G>A single nucleotide variant not provided [RCV003411353] Chr16:56213373 [GRCh38]
Chr16:56247285 [GRCh37]
Chr16:16q13
benign
NM_020988.3(GNAO1):c.723+6954G>A single nucleotide variant not provided [RCV003411354] Chr16:56343814 [GRCh38]
Chr16:56377726 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.280G>A (p.Glu94Lys) single nucleotide variant GNAO1-Related Condition [RCV003412043] Chr16:56276049 [GRCh38]
Chr16:56309961 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.464+1G>T single nucleotide variant GNAO1-Related Condition [RCV003416740] Chr16:56328792 [GRCh38]
Chr16:56362704 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.474C>G (p.Asp158Glu) single nucleotide variant Developmental and epileptic encephalopathy, 17 [RCV003389127] Chr16:56334738 [GRCh38]
Chr16:56368650 [GRCh37]
Chr16:16q13
uncertain significance
NM_020988.3(GNAO1):c.594-20C>T single nucleotide variant Early infantile epileptic encephalopathy with suppression bursts [RCV003849620] Chr16:56336711 [GRCh38]
Chr16:56370623 [GRCh37]
Chr16:16q13
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5920
Count of miRNA genes:1290
Interacting mature miRNAs:1707
Transcripts:ENST00000262493, ENST00000262494, ENST00000562316, ENST00000563440, ENST00000563661, ENST00000564727, ENST00000564798, ENST00000565363, ENST00000568375, ENST00000569295, ENST00000570235
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.

Markers in Region
D16S3140  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371656,311,623 - 56,311,790UniSTSGRCh37
Build 361654,869,124 - 54,869,291RGDNCBI36
Celera1640,808,443 - 40,808,610RGD
Cytogenetic Map16q13UniSTS
Cytogenetic Map16q12.1UniSTS
HuRef1642,182,064 - 42,182,225UniSTS
Marshfield Genetic Map1674.44RGD
Marshfield Genetic Map1674.44UniSTS
Genethon Genetic Map1672.6UniSTS
Whitehead-YAC Contig Map16 UniSTS
D16S408  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371656,320,496 - 56,320,744UniSTSGRCh37
GRCh371656,320,527 - 56,320,708UniSTSGRCh37
Build 361654,878,028 - 54,878,209RGDNCBI36
Celera1640,817,346 - 40,817,525RGD
Celera1640,817,315 - 40,817,561UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map16q13-q21UniSTS
Cytogenetic Map16q13UniSTS
HuRef1642,190,927 - 42,191,173UniSTS
HuRef1642,190,958 - 42,191,137UniSTS
Marshfield Genetic Map1674.44RGD
Marshfield Genetic Map1674.44UniSTS
Genethon Genetic Map1672.6UniSTS
deCODE Assembly Map1671.56UniSTS
Stanford-G3 RH Map161982.0UniSTS
GeneMap99-GB4 RH Map16359.62UniSTS
Whitehead-RH Map16269.4UniSTS
Whitehead-YAC Contig Map16 UniSTS
NCBI RH Map16441.9UniSTS
GeneMap99-G3 RH Map162426.0UniSTS
D16S736  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371656,277,520 - 56,277,767UniSTSGRCh37
Build 361654,835,021 - 54,835,268RGDNCBI36
Celera1640,774,331 - 40,774,578RGD
Cytogenetic Map16q13UniSTS
HuRef1642,148,210 - 42,148,457UniSTS
Stanford-G3 RH Map161978.0UniSTS
NCBI RH Map16439.7UniSTS
D16S434E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371656,380,101 - 56,380,196UniSTSGRCh37
GRCh371656,380,097 - 56,380,197UniSTSGRCh37
GRCh371656,380,026 - 56,380,223UniSTSGRCh37
Build 361654,937,527 - 54,937,724RGDNCBI36
Celera1640,876,921 - 40,877,016UniSTS
Celera1640,876,846 - 40,877,043RGD
Celera1640,876,917 - 40,877,017UniSTS
Cytogenetic Map16q13UniSTS
HuRef1642,250,500 - 42,250,596UniSTS
HuRef1642,250,496 - 42,250,597UniSTS
HuRef1642,250,425 - 42,250,623UniSTS
TNG Radiation Hybrid Map1623222.0UniSTS
Stanford-G3 RH Map161986.0UniSTS
Whitehead-RH Map16267.6UniSTS
Whitehead-YAC Contig Map16 UniSTS
NCBI RH Map16444.0UniSTS
GeneMap99-G3 RH Map162430.0UniSTS
SHGC-79158  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371656,294,964 - 56,295,241UniSTSGRCh37
Build 361654,852,465 - 54,852,742RGDNCBI36
Celera1640,791,784 - 40,792,061RGD
Cytogenetic Map16q13UniSTS
HuRef1642,165,655 - 42,165,932UniSTS
TNG Radiation Hybrid Map1623298.0UniSTS
TNG Radiation Hybrid Map1623285.0UniSTS
D16S317  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371656,304,279 - 56,304,440UniSTSGRCh37
Build 361654,861,780 - 54,861,941RGDNCBI36
Celera1640,801,099 - 40,801,260RGD
Cytogenetic Map16q13UniSTS
HuRef1642,174,970 - 42,175,131UniSTS
D16S2698  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371656,348,468 - 56,348,674UniSTSGRCh37
Build 361654,905,969 - 54,906,175RGDNCBI36
Celera1640,845,287 - 40,845,493RGD
Cytogenetic Map16q13UniSTS
HuRef1642,218,866 - 42,219,072UniSTS
D16S2699  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371656,284,390 - 56,284,512UniSTSGRCh37
Build 361654,841,891 - 54,842,013RGDNCBI36
Celera1640,781,201 - 40,781,323RGD
Cytogenetic Map16q13UniSTS
HuRef1642,155,080 - 42,155,202UniSTS
D16S2786  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371656,273,364 - 56,273,655UniSTSGRCh37
Build 361654,830,865 - 54,831,156RGDNCBI36
Celera1640,770,175 - 40,770,466RGD
Cytogenetic Map16q13UniSTS
HuRef1642,144,054 - 42,144,345UniSTS
SHGC-106383  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371656,231,588 - 56,231,888UniSTSGRCh37
Build 361654,789,089 - 54,789,389RGDNCBI36
Celera1640,728,401 - 40,728,701RGD
Cytogenetic Map16q13UniSTS
HuRef1642,102,281 - 42,102,581UniSTS
TNG Radiation Hybrid Map1623328.0UniSTS
SHGC-151028  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371656,320,511 - 56,320,747UniSTSGRCh37
Build 361654,878,012 - 54,878,248RGDNCBI36
Celera1640,817,330 - 40,817,564RGD
Cytogenetic Map16q13UniSTS
HuRef1642,190,942 - 42,191,176UniSTS
TNG Radiation Hybrid Map550486.0UniSTS
TNG Radiation Hybrid Map1623266.0UniSTS
SHGC-151169  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371656,311,486 - 56,311,795UniSTSGRCh37
Build 361654,868,987 - 54,869,296RGDNCBI36
Celera1640,808,306 - 40,808,615RGD
Cytogenetic Map16q13UniSTS
HuRef1642,181,927 - 42,182,230UniSTS
TNG Radiation Hybrid Map1623298.0UniSTS
SHGC-152262  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371656,311,460 - 56,311,711UniSTSGRCh37
Build 361654,868,961 - 54,869,232RGDNCBI36
Celera1640,808,280 - 40,808,551RGD
Celera1640,808,280 - 40,808,531UniSTS
Cytogenetic Map16q13UniSTS
HuRef1642,181,901 - 42,182,152UniSTS
TNG Radiation Hybrid Map1020571.0UniSTS
RH71386  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371656,391,255 - 56,391,423UniSTSGRCh37
Build 361654,948,756 - 54,948,924RGDNCBI36
Celera1640,888,075 - 40,888,243RGD
Cytogenetic Map16q13UniSTS
HuRef1642,261,894 - 42,262,062UniSTS
GeneMap99-GB4 RH Map16370.0UniSTS
NCBI RH Map16486.1UniSTS
RH68394  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371656,391,124 - 56,391,266UniSTSGRCh37
Build 361654,948,625 - 54,948,767RGDNCBI36
Celera1640,887,944 - 40,888,086RGD
Cytogenetic Map16q13UniSTS
HuRef1642,261,763 - 42,261,905UniSTS
GeneMap99-GB4 RH Map16372.93UniSTS
NCBI RH Map16441.7UniSTS
G10169  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371656,263,473 - 56,263,685UniSTSGRCh37
Build 361654,820,974 - 54,821,186RGDNCBI36
Celera1640,760,284 - 40,760,496RGD
Cytogenetic Map16q13UniSTS
HuRef1642,134,164 - 42,134,376UniSTS
D16S434E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q13UniSTS
D16S408  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q13UniSTS
Stanford-G3 RH Map161989.0UniSTS
NCBI RH Map16445.9UniSTS
GeneMap99-G3 RH Map162433.0UniSTS
D16S434E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q13UniSTS
Whitehead-RH Map16267.6UniSTS
Whitehead-YAC Contig Map16 UniSTS


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 880 478 328 34 64 33 300 179 3038 18 359 90 3 12 125
Low 1431 1925 1268 504 744 355 3509 1517 676 184 975 1324 158 1 1135 2198 3
Below cutoff 57 584 116 74 687 67 540 492 18 197 100 176 11 57 465 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_138736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007064866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008489074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC009102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC079411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF493894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF493895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR936770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA115582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA500625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA529437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KR081949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M59927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OU666873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000262493   ⟹   ENSP00000262493
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1656,191,489 - 56,357,444 (+)Ensembl
RefSeq Acc Id: ENST00000262494   ⟹   ENSP00000262494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1656,191,489 - 56,348,199 (+)Ensembl
RefSeq Acc Id: ENST00000562316   ⟹   ENSP00000457238
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1656,328,661 - 56,356,347 (+)Ensembl
RefSeq Acc Id: ENST00000563440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1656,226,379 - 56,334,775 (+)Ensembl
RefSeq Acc Id: ENST00000563661   ⟹   ENSP00000492694
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1656,192,143 - 56,277,027 (+)Ensembl
RefSeq Acc Id: ENST00000564727   ⟹   ENSP00000454971
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1656,336,834 - 56,356,131 (+)Ensembl
RefSeq Acc Id: ENST00000564798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1656,340,296 - 56,348,132 (+)Ensembl
RefSeq Acc Id: ENST00000565363
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1656,192,493 - 56,334,776 (+)Ensembl
RefSeq Acc Id: ENST00000568375   ⟹   ENSP00000491143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1656,336,746 - 56,355,132 (+)Ensembl
RefSeq Acc Id: ENST00000569295   ⟹   ENSP00000492271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1656,191,547 - 56,192,696 (+)Ensembl
RefSeq Acc Id: ENST00000570235   ⟹   ENSP00000477740
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1656,191,965 - 56,213,407 (+)Ensembl
RefSeq Acc Id: ENST00000638185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1656,235,009 - 56,354,935 (+)Ensembl
RefSeq Acc Id: ENST00000638210
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1656,194,086 - 56,357,377 (+)Ensembl
RefSeq Acc Id: ENST00000638705   ⟹   ENSP00000491223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1656,191,734 - 56,357,015 (+)Ensembl
RefSeq Acc Id: ENST00000638836
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1656,192,546 - 56,356,741 (+)Ensembl
RefSeq Acc Id: ENST00000639055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1656,270,239 - 56,354,939 (+)Ensembl
RefSeq Acc Id: ENST00000639251
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1656,192,555 - 56,355,152 (+)Ensembl
RefSeq Acc Id: ENST00000639268   ⟹   ENSP00000491391
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1656,276,006 - 56,355,182 (+)Ensembl
RefSeq Acc Id: ENST00000639341   ⟹   ENSP00000491137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1656,334,740 - 56,356,379 (+)Ensembl
RefSeq Acc Id: ENST00000639770   ⟹   ENSP00000491999
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1656,192,269 - 56,356,486 (+)Ensembl
RefSeq Acc Id: ENST00000639787
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1656,339,763 - 56,344,311 (+)Ensembl
RefSeq Acc Id: ENST00000639966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1656,192,221 - 56,329,238 (+)Ensembl
RefSeq Acc Id: ENST00000640390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1656,193,622 - 56,357,136 (+)Ensembl
RefSeq Acc Id: ENST00000640469   ⟹   ENSP00000491875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1656,336,774 - 56,355,439 (+)Ensembl
RefSeq Acc Id: ENST00000640560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1656,336,362 - 56,356,832 (+)Ensembl
RefSeq Acc Id: ENST00000640893   ⟹   ENSP00000492677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1656,192,235 - 56,357,212 (+)Ensembl
RefSeq Acc Id: ENST00000675160   ⟹   ENSP00000502403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1656,191,390 - 56,238,062 (+)Ensembl
RefSeq Acc Id: NM_020988   ⟹   NP_066268
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381656,191,489 - 56,357,444 (+)NCBI
GRCh371656,225,251 - 56,391,356 (+)ENTREZGENE
Build 361654,783,649 - 54,948,651 (+)NCBI Archive
HuRef1642,096,140 - 42,261,995 (+)ENTREZGENE
CHM1_11657,632,612 - 57,798,711 (+)NCBI
T2T-CHM13v2.01661,986,534 - 62,152,480 (+)NCBI
Sequence:
RefSeq Acc Id: NM_138736   ⟹   NP_620073
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381656,191,489 - 56,348,199 (+)NCBI
GRCh371656,225,251 - 56,391,356 (+)ENTREZGENE
Build 361654,783,649 - 54,935,363 (+)NCBI Archive
HuRef1642,096,140 - 42,261,995 (+)ENTREZGENE
CHM1_11657,632,612 - 57,789,468 (+)NCBI
T2T-CHM13v2.01661,986,534 - 62,143,233 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523003   ⟹   XP_011521305
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381656,192,555 - 56,357,444 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054380080   ⟹   XP_054236055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01661,987,644 - 62,152,480 (+)NCBI
RefSeq Acc Id: XR_007064866
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381656,191,489 - 56,348,135 (+)NCBI
RefSeq Acc Id: XR_008489074
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01661,986,534 - 62,143,171 (+)NCBI
RefSeq Acc Id: NP_066268   ⟸   NM_020988
- Peptide Label: isoform a
- UniProtKB: Q8TD72 (UniProtKB/Swiss-Prot),   P29777 (UniProtKB/Swiss-Prot),   Q9UMV4 (UniProtKB/Swiss-Prot),   P09471 (UniProtKB/Swiss-Prot),   B3KP89 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_620073   ⟸   NM_138736
- Peptide Label: isoform b
- UniProtKB: A0A142CHG9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011521305   ⟸   XM_011523003
- Peptide Label: isoform X1
- UniProtKB: Q8N6I9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000477740   ⟸   ENST00000570235
RefSeq Acc Id: ENSP00000491223   ⟸   ENST00000638705
RefSeq Acc Id: ENSP00000491391   ⟸   ENST00000639268
RefSeq Acc Id: ENSP00000491999   ⟸   ENST00000639770
RefSeq Acc Id: ENSP00000491137   ⟸   ENST00000639341
RefSeq Acc Id: ENSP00000492677   ⟸   ENST00000640893
RefSeq Acc Id: ENSP00000491875   ⟸   ENST00000640469
RefSeq Acc Id: ENSP00000457238   ⟸   ENST00000562316
RefSeq Acc Id: ENSP00000492694   ⟸   ENST00000563661
RefSeq Acc Id: ENSP00000454971   ⟸   ENST00000564727
RefSeq Acc Id: ENSP00000262493   ⟸   ENST00000262493
RefSeq Acc Id: ENSP00000262494   ⟸   ENST00000262494
RefSeq Acc Id: ENSP00000491143   ⟸   ENST00000568375
RefSeq Acc Id: ENSP00000492271   ⟸   ENST00000569295
RefSeq Acc Id: ENSP00000502403   ⟸   ENST00000675160
RefSeq Acc Id: XP_054236055   ⟸   XM_054380080
- Peptide Label: isoform X1
- UniProtKB: Q8N6I9 (UniProtKB/TrEMBL)
Protein Domains
G-alpha

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P09471-F1-model_v2 AlphaFold P09471 1-354 view protein structure

Promoters
RGD ID:6793253
Promoter ID:HG_KWN:23841
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour
Transcripts:NM_020988,   NM_138736,   NR_027078
Position:
Human AssemblyChrPosition (strand)Source
Build 361654,782,611 - 54,783,111 (-)MPROMDB
RGD ID:6815132
Promoter ID:HG_MRA:6068
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:AL512686
Position:
Human AssemblyChrPosition (strand)Source
Build 361654,935,506 - 54,936,006 (+)MPROMDB
RGD ID:7232247
Promoter ID:EPDNEW_H21869
Type:initiation region
Name:GNAO1_2
Description:G protein subunit alpha o1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21870  EPDNEW_H21871  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381656,191,376 - 56,191,436EPDNEW
RGD ID:7232249
Promoter ID:EPDNEW_H21870
Type:initiation region
Name:GNAO1_1
Description:G protein subunit alpha o1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21869  EPDNEW_H21871  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381656,191,489 - 56,191,549EPDNEW
RGD ID:7232251
Promoter ID:EPDNEW_H21871
Type:initiation region
Name:GNAO1_3
Description:G protein subunit alpha o1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21869  EPDNEW_H21870  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381656,191,734 - 56,191,794EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4389 AgrOrtholog
COSMIC GNAO1 COSMIC
Ensembl Genes ENSG00000087258 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000262493 ENTREZGENE
  ENST00000262493.12 UniProtKB/Swiss-Prot
  ENST00000262494 ENTREZGENE
  ENST00000262494.13 UniProtKB/Swiss-Prot
  ENST00000562316.6 UniProtKB/TrEMBL
  ENST00000563661.2 UniProtKB/TrEMBL
  ENST00000564727.2 UniProtKB/TrEMBL
  ENST00000568375.2 UniProtKB/TrEMBL
  ENST00000569295.6 UniProtKB/TrEMBL
  ENST00000570235.2 UniProtKB/TrEMBL
  ENST00000638705.1 UniProtKB/Swiss-Prot
  ENST00000639268.1 UniProtKB/TrEMBL
  ENST00000639341.1 UniProtKB/TrEMBL
  ENST00000639770.1 UniProtKB/TrEMBL
  ENST00000640469.1 UniProtKB/TrEMBL
  ENST00000640893.1 UniProtKB/TrEMBL
  ENST00000675160.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.400.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000087258 GTEx
HGNC ID HGNC:4389 ENTREZGENE
Human Proteome Map GNAO1 Human Proteome Map
InterPro Gprotein_alpha_I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gprotein_alpha_su UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GproteinA_insert UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2775 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2775 ENTREZGENE
OMIM 139311 OMIM
PANTHER GUANINE NUCLEOTIDE-BINDING PROTEIN G(O) SUBUNIT ALPHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10218 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam G-alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28771 PharmGKB
PRINTS GPROTEINA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPROTEINAI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_ALPHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART G_alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47895 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WTB6_HUMAN UniProtKB/TrEMBL
  A0A142CHG9 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PP38_HUMAN UniProtKB/TrEMBL
  A0A1W2PP87_HUMAN UniProtKB/TrEMBL
  A0A1W2PPG6_HUMAN UniProtKB/TrEMBL
  A0A1W2PQ24_HUMAN UniProtKB/TrEMBL
  A0A1W2PQK2_HUMAN UniProtKB/TrEMBL
  A0A1W2PRE1_HUMAN UniProtKB/TrEMBL
  A0A1W2PRJ7_HUMAN UniProtKB/TrEMBL
  A0A1W2PS82_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGR1_HUMAN UniProtKB/TrEMBL
  B3KP89 ENTREZGENE, UniProtKB/TrEMBL
  GNAO_HUMAN UniProtKB/Swiss-Prot
  H3BNR5_HUMAN UniProtKB/TrEMBL
  H3BTM2_HUMAN UniProtKB/TrEMBL
  P09471 ENTREZGENE
  P29777 ENTREZGENE
  Q6AWC5_HUMAN UniProtKB/TrEMBL
  Q8N6I9 ENTREZGENE, UniProtKB/TrEMBL
  Q8TD72 ENTREZGENE
  Q9UMV4 ENTREZGENE
UniProt Secondary P29777 UniProtKB/Swiss-Prot
  Q8TD72 UniProtKB/Swiss-Prot
  Q9UMV4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-14 GNAO1  G protein subunit alpha o1    guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O  Symbol and/or name change 5135510 APPROVED