CHRNB2 (cholinergic receptor nicotinic beta 2 subunit) - Rat Genome Database
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Gene: CHRNB2 (cholinergic receptor nicotinic beta 2 subunit) Homo sapiens
Analyze
Symbol: CHRNB2
Name: cholinergic receptor nicotinic beta 2 subunit
RGD ID: 733218
HGNC Page HGNC
Description: Exhibits acetylcholine binding activity; acetylcholine receptor activity; and acetylcholine-gated cation-selective channel activity. Involved in several processes, including behavioral response to nicotine; learning or memory; and response to hypoxia. Localizes to acetylcholine-gated channel complex. Implicated in autosomal dominant nocturnal frontal lobe epilepsy and autosomal dominant nocturnal frontal lobe epilepsy 3.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: acetylcholine receptor, nicotinic, beta 2 (neuronal); beta2 human neuronal nicotinic acetylcholine receptor; cholinergic receptor, nicotinic beta 2; cholinergic receptor, nicotinic, beta 2 (neuronal); cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal); EFNL3; nAChRB2; neuronal acetylcholine receptor subunit beta-2; neuronal nicotinic acetylcholine receptor beta 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1154,567,778 - 154,580,013 (+)EnsemblGRCh38hg38GRCh38
GRCh381154,567,778 - 154,584,708 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371154,540,254 - 154,552,489 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh371154,540,257 - 154,552,354 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361152,806,881 - 152,818,978 (+)NCBINCBI36hg18NCBI36
Build 341151,353,329 - 151,362,156NCBI
Celera1127,611,891 - 127,623,988 (+)NCBI
Cytogenetic Map1q21.3NCBI
HuRef1125,903,718 - 125,915,813 (+)NCBIHuRef
CHM1_11155,936,657 - 155,948,754 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-lobeline  (EXP)
(E)-thiamethoxam  (ISO)
(S)-anabasine  (ISO)
(S)-nicotine  (EXP,ISO)
1,1-dimethyl-4-phenylpiperazinium iodide  (EXP)
13-desmethylspirolide C  (EXP)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-tetrachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,4-methylenedioxymethamphetamine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4-nonylphenol  (EXP)
4-octylphenol  (EXP)
acetamiprid  (ISO)
acetylcholine  (EXP,ISO)
alcuronium  (EXP)
all-trans-retinoic acid  (ISO)
aluminium hydroxide  (EXP)
Amaranth  (ISO)
amitriptyline  (ISO)
ammonium chloride  (ISO)
Antimony trioxide  (EXP)
atracurium  (EXP)
atropine  (EXP,ISO)
barium(0)  (ISO)
bentonite  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bleomycin A2  (ISO)
Brilliant Blue  (ISO)
butan-1-ol  (EXP)
calcium atom  (EXP,ISO)
calcium(0)  (EXP,ISO)
carbachol  (EXP,ISO)
carbamazepine  (EXP)
carbaryl  (ISO)
chlorpyrifos  (ISO)
choline  (EXP)
cisatracurium  (EXP)
Citreoviridin  (ISO)
clofibrate  (ISO)
clothianidin  (EXP,ISO)
cocaine  (ISO)
cyclosporin A  (EXP)
cytisine  (EXP,ISO)
decabromodiphenyl ether  (EXP)
decamethonium  (EXP)
diazinon  (ISO)
dichloroacetic acid  (ISO)
dichlorvos  (EXP)
diethylstilbestrol  (EXP)
dihydro-beta-erythroidine  (EXP,ISO)
dinotefuran  (ISO)
dopamine  (ISO)
endosulfan  (ISO)
epibatidine  (EXP,ISO)
EPTC  (ISO)
ethanol  (ISO)
fenoxycarb  (ISO)
folic acid  (ISO)
furan  (ISO)
galanthamine  (EXP)
galanthamine Trifluoroacetic acid  (EXP)
genistein  (ISO)
graphite  (ISO)
hexachlorophene  (ISO)
Hexamethonium  (EXP,ISO)
imidacloprid  (EXP,ISO)
indigo carmine  (ISO)
LY294002  (EXP)
magnesium dihydroxide  (EXP)
Mecamylamine  (EXP,ISO)
mercury dichloride  (ISO)
methyllycaconitine  (EXP)
Mivacurium  (EXP)
nicotine  (EXP,ISO)
nitenpyram  (ISO)
ochratoxin A  (ISO)
okadaic acid  (EXP)
pancuronium  (EXP)
paracetamol  (ISO)
paraoxon  (ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
PhIP  (ISO)
physostigmine  (EXP)
progesterone  (EXP)
pyrazines  (EXP)
pyridines  (EXP)
rivastigmine  (EXP)
rocuronium  (EXP)
scopolamine  (EXP)
succinylcholine  (EXP)
Sunset Yellow FCF  (ISO)
T-2 toxin  (ISO)
tacrine  (EXP,ISO)
tamoxifen  (EXP)
tartrazine  (ISO)
tetrachloroethene  (EXP,ISO)
tetrachloromethane  (ISO)
thiacloprid  (ISO)
thiamethoxam  (ISO)
toluene  (EXP,ISO)
triphenyl phosphate  (EXP)
tropan-3alpha-yl 3-hydroxy-2-phenylpropanoate  (EXP,ISO)
tubocurarine  (EXP,ISO)
urethane  (ISO)
valproic acid  (EXP,ISO)
varenicline  (EXP,ISO)
vecuronium bromide  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
acetylcholine receptor signaling pathway  (IEA,ISO,ISS)
action potential  (ISO)
associative learning  (ISO,ISS)
B cell activation  (ISO,ISS)
behavioral response to nicotine  (IMP,ISO)
calcium ion transport  (ISO,ISS)
central nervous system neuron axonogenesis  (ISO)
central nervous system projection neuron axonogenesis  (ISO,ISS)
chemical synaptic transmission  (IBA)
cognition  (IMP)
conditioned taste aversion  (ISO)
excitatory postsynaptic potential  (IEA)
ion transmembrane transport  (IBA,IEA)
ion transport  (NAS)
lateral geniculate nucleus development  (ISO,ISS)
learning  (IMP,ISO)
locomotory behavior  (ISO,ISS)
membrane depolarization  (ISO,ISS)
memory  (IMP,ISO)
negative regulation of action potential  (ISO,ISS)
nervous system process  (IBA,IMP)
optic nerve morphogenesis  (ISO,ISS)
positive regulation of B cell proliferation  (ISO,ISS)
positive regulation of dopamine secretion  (ISO,ISS)
positive regulation of synaptic transmission, dopaminergic  (ISO)
regulation of circadian sleep/wake cycle, non-REM sleep  (ISO)
regulation of circadian sleep/wake cycle, REM sleep  (ISO,ISS)
regulation of dendrite morphogenesis  (ISO,ISS)
regulation of dopamine metabolic process  (ISO,ISS)
regulation of dopamine secretion  (ISO,ISS)
regulation of membrane potential  (IBA,ISO)
regulation of synapse assembly  (ISO,ISS)
regulation of synaptic transmission, dopaminergic  (ISO,ISS)
regulation of synaptic vesicle exocytosis  (ISO)
response to acetylcholine  (ISO,ISS)
response to cocaine  (ISO,ISS)
response to ethanol  (ISO,ISS)
response to hypoxia  (IDA,ISO)
response to nicotine  (IDA,IEA,ISO)
sensory perception of pain  (ISO,ISS)
sensory perception of sound  (ISO,ISS)
signal transduction  (IBA,IDA)
smooth muscle contraction  (ISO,ISS)
social behavior  (ISO,ISS)
synaptic transmission involved in micturition  (ISO,ISS)
synaptic transmission, cholinergic  (IEA,ISO,ISS)
vestibulocochlear nerve development  (ISO,ISS)
visual learning  (IMP,ISO)
visual perception  (ISO,ISS)

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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:1397297   PMID:1505988   PMID:2377478   PMID:8663494   PMID:8906617   PMID:8987816   PMID:9009220   PMID:9921897   PMID:10441742   PMID:10771020   PMID:11054772   PMID:11062464  
PMID:11261808   PMID:11771745   PMID:11906688   PMID:11952766   PMID:12185808   PMID:12189247   PMID:12202488   PMID:12214130   PMID:12477932   PMID:12663058   PMID:12681012   PMID:15026168  
PMID:15033200   PMID:15046869   PMID:15154117   PMID:15489334   PMID:15681842   PMID:15944128   PMID:15964197   PMID:16023355   PMID:16174636   PMID:16183856   PMID:16238698   PMID:16314871  
PMID:16407231   PMID:16636791   PMID:16928859   PMID:17192785   PMID:17226798   PMID:17373692   PMID:17385675   PMID:17559419   PMID:17900292   PMID:18043764   PMID:18226955   PMID:18242781  
PMID:18387948   PMID:18534558   PMID:18534914   PMID:18593715   PMID:18762859   PMID:18830724   PMID:18991851   PMID:19058950   PMID:19059502   PMID:19063970   PMID:19086053   PMID:19101612  
PMID:19156168   PMID:19259974   PMID:19279256   PMID:19482438   PMID:19620239   PMID:19755656   PMID:19874574   PMID:20231857   PMID:20301348   PMID:20371741   PMID:20413850   PMID:20438829  
PMID:20441771   PMID:20534741   PMID:20574532   PMID:20603624   PMID:20649589   PMID:20677014   PMID:20734064   PMID:20736995   PMID:20854418   PMID:20880607   PMID:20881005   PMID:20923852  
PMID:20943775   PMID:21252231   PMID:21287502   PMID:21396349   PMID:21451042   PMID:21536845   PMID:21606948   PMID:21757735   PMID:21873635   PMID:22359659   PMID:22553201   PMID:23000369  
PMID:23037950   PMID:23429692   PMID:23437071   PMID:23734673   PMID:24850280   PMID:24982426   PMID:25068303   PMID:25640319   PMID:25869137   PMID:26644472   PMID:26801076   PMID:26858154  
PMID:26904947   PMID:27344019   PMID:27445102   PMID:27645992   PMID:27698419   PMID:27721068   PMID:27895161   PMID:28446611   PMID:28600847   PMID:29720657   PMID:31130483  


Genomics

Comparative Map Data
CHRNB2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1154,567,778 - 154,580,013 (+)EnsemblGRCh38hg38GRCh38
GRCh381154,567,778 - 154,584,708 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371154,540,254 - 154,552,489 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh371154,540,257 - 154,552,354 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361152,806,881 - 152,818,978 (+)NCBINCBI36hg18NCBI36
Build 341151,353,329 - 151,362,156NCBI
Celera1127,611,891 - 127,623,988 (+)NCBI
Cytogenetic Map1q21.3NCBI
HuRef1125,903,718 - 125,915,813 (+)NCBIHuRef
CHM1_11155,936,657 - 155,948,754 (+)NCBICHM1_1
Chrnb2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39389,660,755 - 89,671,939 (-)NCBIGRCm39mm39
GRCm38389,753,448 - 89,764,632 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl389,746,195 - 89,764,632 (-)EnsemblGRCm38mm10GRCm38
MGSCv37389,557,370 - 89,568,554 (-)NCBIGRCm37mm9NCBIm37
MGSCv36389,839,375 - 89,850,512 (-)NCBImm8
Celera389,790,490 - 89,801,674 (-)NCBICelera
Cytogenetic Map3F1NCBI
cM Map339.19NCBI
Chrnb2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22175,181,402 - 175,189,619 (-)NCBI
Rnor_6.0 Ensembl2189,088,570 - 189,096,785 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.02189,088,570 - 189,096,785 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02208,511,421 - 208,519,636 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42181,961,373 - 181,969,581 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12181,911,478 - 181,919,687 (-)NCBI
Celera2169,123,949 - 169,132,124 (-)NCBICelera
Cytogenetic Map2q34NCBI
Chrnb2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555451,065,457 - 1,077,526 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555451,065,457 - 1,077,056 (+)NCBIChiLan1.0ChiLan1.0
CHRNB2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11133,535,023 - 133,547,361 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1133,535,023 - 133,547,361 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01129,922,740 - 129,931,582 (+)NCBIMhudiblu_PPA_v0panPan3
CHRNB2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl742,789,600 - 42,795,722 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1742,786,505 - 42,797,976 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Chrnb2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365804,165,255 - 4,179,285 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CHRNB2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl495,198,717 - 95,211,037 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1495,196,992 - 95,211,084 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24104,024,711 - 104,036,882 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CHRNB2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1209,245,803 - 9,255,430 (-)NCBI
ChlSab1.1 Ensembl209,247,231 - 9,253,795 (-)Ensembl
Chrnb2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248852,839,607 - 2,851,934 (-)NCBI

Position Markers
RH70833  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371154,548,248 - 154,548,464UniSTSGRCh37
Build 361152,814,872 - 152,815,088RGDNCBI36
Celera1127,619,882 - 127,620,098RGD
Cytogenetic Map1q21.3UniSTS
HuRef1125,911,709 - 125,911,925UniSTS
GeneMap99-GB4 RH Map1552.65UniSTS
NCBI RH Map11270.6UniSTS
CHRNB2_23  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371154,548,352 - 154,549,139UniSTSGRCh37
Build 361152,814,976 - 152,815,763RGDNCBI36
Celera1127,619,986 - 127,620,773RGD
HuRef1125,911,813 - 125,912,600UniSTS
WI-19921  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371154,552,033 - 154,552,307UniSTSGRCh37
Build 361152,818,657 - 152,818,931RGDNCBI36
Celera1127,623,667 - 127,623,941RGD
Cytogenetic Map1q21.3UniSTS
HuRef1125,915,492 - 125,915,766UniSTS
GeneMap99-GB4 RH Map1542.04UniSTS
Whitehead-RH Map1680.7UniSTS
NCBI RH Map11123.3UniSTS
STS-R37134  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371154,552,221 - 154,552,313UniSTSGRCh37
Build 361152,818,845 - 152,818,937RGDNCBI36
Celera1127,623,855 - 127,623,947RGD
Cytogenetic Map1q21.3UniSTS
HuRef1125,915,680 - 125,915,772UniSTS
GeneMap99-GB4 RH Map1554.16UniSTS
NCBI RH Map11312.6UniSTS
RH46993  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371154,552,086 - 154,552,248UniSTSGRCh37
Build 361152,818,710 - 152,818,872RGDNCBI36
Celera1127,623,720 - 127,623,882RGD
Cytogenetic Map1q21.3UniSTS
HuRef1125,915,545 - 125,915,707UniSTS
GeneMap99-GB4 RH Map1538.16UniSTS
NCBI RH Map11163.3UniSTS
STS-U62437  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371154,548,448 - 154,548,685UniSTSGRCh37
Build 361152,815,072 - 152,815,309RGDNCBI36
Celera1127,620,082 - 127,620,319RGD
Cytogenetic Map1q21.3UniSTS
HuRef1125,911,909 - 125,912,146UniSTS
GeneMap99-GB4 RH Map1555.98UniSTS
NCBI RH Map11265.9UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2347
Count of miRNA genes:1039
Interacting mature miRNAs:1260
Transcripts:ENST00000368476
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 4 31 3 4 1364 4 4 68
Low 455 13 312 12 110 13 378 71 1588 51 466 58 3 1 90
Below cutoff 1935 2683 1228 493 1584 337 3779 1998 769 283 912 1385 165 1157 2551 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001736952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF077186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF174495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ001935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ001936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ001937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ001938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ001939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL592078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX719090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R40506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U62437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X53179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000368476   ⟹   ENSP00000357461
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1154,567,778 - 154,580,013 (+)Ensembl
RefSeq Acc Id: ENST00000635876
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1154,576,809 - 154,579,262 (+)Ensembl
RefSeq Acc Id: ENST00000636034   ⟹   ENSP00000489703
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1154,567,796 - 154,579,821 (+)Ensembl
RefSeq Acc Id: ENST00000636695   ⟹   ENSP00000490203
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1154,569,528 - 154,570,275 (+)Ensembl
RefSeq Acc Id: ENST00000637900   ⟹   ENSP00000490474
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1154,567,835 - 154,576,597 (+)Ensembl
RefSeq Acc Id: NM_000748   ⟹   NP_000739
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381154,567,778 - 154,580,013 (+)NCBI
GRCh371154,540,257 - 154,552,354 (+)ENTREZGENE
Build 361152,806,881 - 152,818,978 (+)NCBI Archive
HuRef1125,903,718 - 125,915,813 (+)ENTREZGENE
CHM1_11155,936,657 - 155,948,754 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017000180   ⟹   XP_016855669
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381154,567,799 - 154,584,694 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001736952
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381154,567,793 - 154,584,708 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000739   ⟸   NM_000748
- Peptide Label: precursor
- UniProtKB: P17787 (UniProtKB/Swiss-Prot),   Q5SXY3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016855669   ⟸   XM_017000180
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000489703   ⟸   ENST00000636034
RefSeq Acc Id: ENSP00000490203   ⟸   ENST00000636695
RefSeq Acc Id: ENSP00000490474   ⟸   ENST00000637900
RefSeq Acc Id: ENSP00000357461   ⟸   ENST00000368476
Protein Domains
Neur_chan_LBD   Neur_chan_memb

Promoters
RGD ID:6857354
Promoter ID:EPDNEW_H1842
Type:initiation region
Name:CHRNB2_1
Description:cholinergic receptor nicotinic beta 2 subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381154,567,793 - 154,567,853EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000748.3(CHRNB2):c.201C>T (p.Leu67=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000554685]|Seizures [RCV000717575] Chr1:154569598 [GRCh38]
Chr1:154542074 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.1010T>G (p.Val337Gly) single nucleotide variant Epilepsy, nocturnal frontal lobe, type 3 [RCV000033929] Chr1:154571833 [GRCh38]
Chr1:154544309 [GRCh37]
Chr1:1q21.3
pathogenic
NM_000748.3(CHRNB2):c.859G>T (p.Val287Leu) single nucleotide variant Epilepsy, nocturnal frontal lobe, type 3 [RCV000033930] Chr1:154571682 [GRCh38]
Chr1:154544158 [GRCh37]
Chr1:1q21.3
pathogenic
NM_000748.3(CHRNB2):c.901C>G (p.Leu301Val) single nucleotide variant Epilepsy, nocturnal frontal lobe, type 3 [RCV000033931] Chr1:154571724 [GRCh38]
Chr1:154544200 [GRCh37]
Chr1:1q21.3
pathogenic
NM_000748.3(CHRNB2):c.923T>C (p.Val308Ala) single nucleotide variant Epilepsy, nocturnal frontal lobe, type 3 [RCV000033932]|not provided [RCV000430538] Chr1:154571746 [GRCh38]
Chr1:154544222 [GRCh37]
Chr1:1q21.3
pathogenic|likely pathogenic
NM_000748.3(CHRNB2):c.936C>G (p.Ile312Met) single nucleotide variant Epilepsy, nocturnal frontal lobe, type 3 [RCV000033933] Chr1:154571759 [GRCh38]
Chr1:154544235 [GRCh37]
Chr1:1q21.3
pathogenic
NM_000748.3(CHRNB2):c.859G>C (p.Val287Leu) single nucleotide variant Epilepsy, nocturnal frontal lobe, type 3 [RCV000019047] Chr1:154571682 [GRCh38]
Chr1:154544158 [GRCh37]
Chr1:1q21.3
pathogenic
NM_000748.3(CHRNB2):c.859G>A (p.Val287Met) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001216785]|Epilepsy, nocturnal frontal lobe, type 3 [RCV000019048]|not provided [RCV001091721] Chr1:154571682 [GRCh38]
Chr1:154544158 [GRCh37]
Chr1:1q21.3
pathogenic
NM_000748.3(CHRNB2):c.441G>A (p.Pro147=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000542836] Chr1:154571264 [GRCh38]
Chr1:154543740 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.780C>T (p.Ser260=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000543642]|Seizures [RCV000720313] Chr1:154571603 [GRCh38]
Chr1:154544079 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.1336A>G (p.Ser446Gly) single nucleotide variant not specified [RCV000517124] Chr1:154572159 [GRCh38]
Chr1:154544635 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1375G>T (p.Asp459Tyr) single nucleotide variant not provided [RCV000520324] Chr1:154575798 [GRCh38]
Chr1:154548274 [GRCh37]
Chr1:1q21.3
uncertain significance
GRCh38/hg38 1q21.3-22(chr1:154575689-155292901)x1 copy number loss See cases [RCV000053912] Chr1:154575689..155292901 [GRCh38]
Chr1:154548165..155262692 [GRCh37]
Chr1:152814789..153529316 [NCBI36]
Chr1:1q21.3-22
pathogenic
NM_000748.3(CHRNB2):c.255+7G>C single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000470898]|not specified [RCV000124302] Chr1:154569843 [GRCh38]
Chr1:154542319 [GRCh37]
Chr1:1q21.3
benign
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001084911]|Epilepsy, nocturnal frontal lobe, type 3 [RCV000600905]|Seizures [RCV000715689]|not provided [RCV000711175]|not specified [RCV000186615] Chr1:154572056 [GRCh38]
Chr1:154544532 [GRCh37]
Chr1:1q21.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000748.3(CHRNB2):c.-49G>C single nucleotide variant not specified [RCV000124304] Chr1:154567996 [GRCh38]
Chr1:154540472 [GRCh37]
Chr1:1q21.3
benign
NM_000748.3(CHRNB2):c.1407C>G (p.Val469=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000226117]|not specified [RCV000124305] Chr1:154575830 [GRCh38]
Chr1:154548306 [GRCh37]
Chr1:1q21.3
benign
NM_000748.3(CHRNB2):c.1482A>G (p.Ser494=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000469276]|Seizures [RCV000717894]|not specified [RCV000124306] Chr1:154575905 [GRCh38]
Chr1:154548381 [GRCh37]
Chr1:1q21.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000748.3(CHRNB2):c.1485C>T (p.Asp495=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001086308]|Seizures [RCV000720512]|not provided [RCV000723776]|not specified [RCV000186616] Chr1:154575908 [GRCh38]
Chr1:154548384 [GRCh37]
Chr1:1q21.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000748.3(CHRNB2):c.1378C>G (p.Arg460Gly) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001082319]|Generalized seizures [RCV000171544]|not provided [RCV000186996] Chr1:154575801 [GRCh38]
Chr1:154548277 [GRCh37]
Chr1:1q21.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001084624]|Epilepsy, nocturnal frontal lobe, type 3 [RCV000145707]|Seizures [RCV000715679]|not provided [RCV000440291]|not specified [RCV000178805] Chr1:154572014 [GRCh38]
Chr1:154544490 [GRCh37]
Chr1:1q21.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000748.3(CHRNB2):c.1338+14G>T single nucleotide variant not specified [RCV000145708] Chr1:154572175 [GRCh38]
Chr1:154544651 [GRCh37]
Chr1:1q21.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001084374]|Epilepsy, nocturnal frontal lobe, type 3 [RCV001258263]|Seizures [RCV000716091]|not provided [RCV000513684]|not specified [RCV000179341] Chr1:154575855 [GRCh38]
Chr1:154548331 [GRCh37]
Chr1:1q21.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000748.3(CHRNB2):c.210+9A>G single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000464092]|not specified [RCV000145710] Chr1:154569616 [GRCh38]
Chr1:154542092 [GRCh37]
Chr1:1q21.3
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3 copy number gain See cases [RCV000139902] Chr1:154566501..157624084 [GRCh38]
Chr1:154538977..157593874 [GRCh37]
Chr1:152805601..155860498 [NCBI36]
Chr1:1q21.3-23.1
pathogenic
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2
pathogenic
NM_000748.3(CHRNB2):c.547A>T (p.Ile183Phe) single nucleotide variant not provided [RCV000178804] Chr1:154571370 [GRCh38]
Chr1:154543846 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1046T>C (p.Met349Thr) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001039180]|Intellectual disability [RCV001251720]|not provided [RCV000723869] Chr1:154571869 [GRCh38]
Chr1:154544345 [GRCh37]
Chr1:1q21.3
likely benign|uncertain significance
NM_000748.3(CHRNB2):c.212A>G (p.His71Arg) single nucleotide variant not provided [RCV000186983] Chr1:154569793 [GRCh38]
Chr1:154542269 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.659C>T (p.Thr220Met) single nucleotide variant not provided [RCV000186990] Chr1:154571482 [GRCh38]
Chr1:154543958 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.848T>C (p.Ile283Thr) single nucleotide variant not provided [RCV000186992] Chr1:154571671 [GRCh38]
Chr1:154544147 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1463C>T (p.Thr488Ile) single nucleotide variant not provided [RCV000186997] Chr1:154575886 [GRCh38]
Chr1:154548362 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.360_362CAA[1] (p.Asn122del) microsatellite Autosomal dominant nocturnal frontal lobe epilepsy [RCV001081528]|Seizures [RCV000717812]|not provided [RCV000711176] Chr1:154570361..154570363 [GRCh38]
Chr1:154542837..154542839 [GRCh37]
Chr1:1q21.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000748.3(CHRNB2):c.1129_1131TTC[1] (p.Phe378del) microsatellite not specified [RCV000186999] Chr1:154571950..154571952 [GRCh38]
Chr1:154544426..154544428 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1171_1180delinsCTGACCGACTCCTGCA (p.Val391_Ala394delinsLeuThrAspSerCysThr) indel not specified [RCV000187000] Chr1:154571994..154572003 [GRCh38]
Chr1:154544470..154544479 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1407_1410del (p.Cys470fs) deletion not specified [RCV000187001] Chr1:154575827..154575830 [GRCh38]
Chr1:154548303..154548306 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.297T>C (p.Phe99=) single nucleotide variant not provided [RCV000994108]|not specified [RCV000186976] Chr1:154570299 [GRCh38]
Chr1:154542775 [GRCh37]
Chr1:1q21.3
benign|likely benign
NM_000748.3(CHRNB2):c.1114G>A (p.Gly372Ser) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001058810]|not specified [RCV000186977] Chr1:154571937 [GRCh38]
Chr1:154544413 [GRCh37]
Chr1:1q21.3
likely benign|uncertain significance
NM_000748.3(CHRNB2):c.1171G>C (p.Val391Leu) single nucleotide variant not specified [RCV000186978] Chr1:154571994 [GRCh38]
Chr1:154544470 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.1234G>A (p.Gly412Ser) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000456836]|not specified [RCV000186979] Chr1:154572057 [GRCh38]
Chr1:154544533 [GRCh37]
Chr1:1q21.3
likely benign|uncertain significance
NM_000748.3(CHRNB2):c.1235G>A (p.Gly412Asp) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001085886]|not provided [RCV000232314]|not specified [RCV000186980] Chr1:154572058 [GRCh38]
Chr1:154544534 [GRCh37]
Chr1:1q21.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000748.3(CHRNB2):c.77C>T (p.Thr26Met) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000531578]|Seizures [RCV000717241]|not specified [RCV000186981] Chr1:154569474 [GRCh38]
Chr1:154541950 [GRCh37]
Chr1:1q21.3
benign|likely benign|uncertain significance
NM_000748.3(CHRNB2):c.140G>A (p.Arg47His) single nucleotide variant not provided [RCV000186982] Chr1:154569537 [GRCh38]
Chr1:154542013 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.272G>A (p.Arg91His) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000532516] Chr1:154570274 [GRCh38]
Chr1:154542750 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.317G>A (p.Arg106Gln) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001223159]|Epilepsy, nocturnal frontal lobe, type 3 [RCV000714603] Chr1:154570319 [GRCh38]
Chr1:154542795 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.329A>C (p.Lys110Thr) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001213692]|Epilepsy, nocturnal frontal lobe, type 3 [RCV001262983]|Seizures [RCV000416529]|not provided [RCV000186986] Chr1:154570331 [GRCh38]
Chr1:154542807 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.549C>G (p.Ile183Met) single nucleotide variant not provided [RCV000186987] Chr1:154571372 [GRCh38]
Chr1:154543848 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.620C>G (p.Ala207Gly) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000699747]|not provided [RCV000186988] Chr1:154571443 [GRCh38]
Chr1:154543919 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.640G>A (p.Glu214Lys) single nucleotide variant Epilepsy, nocturnal frontal lobe, type 3 [RCV000764978]|not provided [RCV000186989] Chr1:154571463 [GRCh38]
Chr1:154543939 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.695G>A (p.Arg232His) single nucleotide variant not provided [RCV000186991] Chr1:154571518 [GRCh38]
Chr1:154543994 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.910A>G (p.Thr304Ala) single nucleotide variant not provided [RCV000186993] Chr1:154571733 [GRCh38]
Chr1:154544209 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1314G>A (p.Met438Ile) single nucleotide variant not provided [RCV000186994] Chr1:154572137 [GRCh38]
Chr1:154544613 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.7C>T (p.Arg3Trp) single nucleotide variant not provided [RCV000186995] Chr1:154568051 [GRCh38]
Chr1:154540527 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.150C>T (p.Thr50=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000539803]|Seizures [RCV000718668]|not specified [RCV000248984] Chr1:154569547 [GRCh38]
Chr1:154542023 [GRCh37]
Chr1:1q21.3
benign|likely benign
NM_000748.3(CHRNB2):c.255+7G>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001086270]|not provided [RCV000397177] Chr1:154569843 [GRCh38]
Chr1:154542319 [GRCh37]
Chr1:1q21.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001111.5(ADAR):c.*1712C>G single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000265850] Chr1:154583094 [GRCh38]
Chr1:154555570 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*368G>A single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000290493] Chr1:154584438 [GRCh38]
Chr1:154556914 [GRCh37]
Chr1:1q21.3
benign|likely benign
NM_001111.5(ADAR):c.*1799_*1800del deletion Symmetrical dyschromatosis of extremities [RCV000398155] Chr1:154583006..154583007 [GRCh38]
Chr1:154555482..154555483 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*812C>T single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000306216] Chr1:154583994 [GRCh38]
Chr1:154556470 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*1036C>G single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000295400] Chr1:154583770 [GRCh38]
Chr1:154556246 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*1790A>G single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000308949] Chr1:154583016 [GRCh38]
Chr1:154555492 [GRCh37]
Chr1:1q21.3
benign
NM_001111.5(ADAR):c.*2316G>A single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000314968] Chr1:154582490 [GRCh38]
Chr1:154554966 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*619C>T single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000318816] Chr1:154584187 [GRCh38]
Chr1:154556663 [GRCh37]
Chr1:1q21.3
benign
NM_001111.5(ADAR):c.*825G>A single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000395609] Chr1:154583981 [GRCh38]
Chr1:154556457 [GRCh37]
Chr1:1q21.3
likely benign|uncertain significance
NM_001111.5(ADAR):c.*857C>T single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000301586] Chr1:154583949 [GRCh38]
Chr1:154556425 [GRCh37]
Chr1:1q21.3
benign
NM_000748.3(CHRNB2):c.170C>T (p.Thr57Ile) single nucleotide variant not specified [RCV000517715] Chr1:154569567 [GRCh38]
Chr1:154542043 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.613A>G (p.Ile205Val) single nucleotide variant not specified [RCV000604993] Chr1:154571436 [GRCh38]
Chr1:154543912 [GRCh37]
Chr1:1q21.3
likely benign
NM_001111.5(ADAR):c.*2199C>T single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000362460] Chr1:154582607 [GRCh38]
Chr1:154555083 [GRCh37]
Chr1:1q21.3
benign|likely benign
NM_000748.3(CHRNB2):c.1312A>G (p.Met438Val) single nucleotide variant not specified [RCV000518581] Chr1:154572135 [GRCh38]
Chr1:154544611 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*2586C>T single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000349948] Chr1:154582220 [GRCh38]
Chr1:154554696 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*1016C>T single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000352647] Chr1:154583790 [GRCh38]
Chr1:154556266 [GRCh37]
Chr1:1q21.3
benign
NM_000748.3(CHRNB2):c.139C>T (p.Arg47Cys) single nucleotide variant Inborn genetic diseases [RCV000623783] Chr1:154569536 [GRCh38]
Chr1:154542012 [GRCh37]
Chr1:1q21.3
likely pathogenic
GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3 copy number gain not provided [RCV000585385] Chr1:153751465..156660462 [GRCh37]
Chr1:1q21.3-23.1
likely pathogenic
NM_001111.5(ADAR):c.*468G>A single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000325530] Chr1:154584338 [GRCh38]
Chr1:154556814 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.844C>T (p.Leu282Phe) single nucleotide variant not provided [RCV000735044] Chr1:154571667 [GRCh38]
Chr1:154544143 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*1566T>G single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000323218] Chr1:154583240 [GRCh38]
Chr1:154555716 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*517_*518AG[1] microsatellite Symmetrical dyschromatosis of extremities [RCV000274387] Chr1:154584286..154584287 [GRCh38]
Chr1:154556762..154556763 [GRCh37]
Chr1:1q21.3
benign
NM_001111.5(ADAR):c.*519del deletion Symmetrical dyschromatosis of extremities [RCV000331469] Chr1:154584287 [GRCh38]
Chr1:154556763 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.772C>T (p.Leu258=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000553176]|Seizures [RCV000717456]|not specified [RCV000602088] Chr1:154571595 [GRCh38]
Chr1:154544071 [GRCh37]
Chr1:1q21.3
benign|likely benign
NM_001111.5(ADAR):c.*1344G>A single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000282425] Chr1:154583462 [GRCh38]
Chr1:154555938 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*413A>T single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000382647] Chr1:154584393 [GRCh38]
Chr1:154556869 [GRCh37]
Chr1:1q21.3
benign|likely benign
NM_001111.5(ADAR):c.*1104T>C single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000387349] Chr1:154583702 [GRCh38]
Chr1:154556178 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*479T>C single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000296268] Chr1:154584327 [GRCh38]
Chr1:154556803 [GRCh37]
Chr1:1q21.3
likely benign|uncertain significance
NM_001111.5(ADAR):c.*245T>C single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000402527] Chr1:154584561 [GRCh38]
Chr1:154557037 [GRCh37]
Chr1:1q21.3
benign|likely benign
NM_001111.5(ADAR):c.*884C>T single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000403714] Chr1:154583922 [GRCh38]
Chr1:154556398 [GRCh37]
Chr1:1q21.3
likely benign|uncertain significance
NM_000748.3(CHRNB2):c.373G>A (p.Gly125Ser) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001220609]|not specified [RCV000413172] Chr1:154571196 [GRCh38]
Chr1:154543672 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*2727dup duplication Symmetrical dyschromatosis of extremities [RCV000405271] Chr1:154582078..154582079 [GRCh38]
Chr1:154554554..154554555 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.255+15T>G single nucleotide variant not specified [RCV000434283] Chr1:154569851 [GRCh38]
Chr1:154542327 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.1257G>A (p.Pro419=) single nucleotide variant not specified [RCV000423958] Chr1:154572080 [GRCh38]
Chr1:154544556 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.453C>T (p.Tyr151=) single nucleotide variant not specified [RCV000427713] Chr1:154571276 [GRCh38]
Chr1:154543752 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.1425C>T (p.Ile475=) single nucleotide variant Seizures [RCV000720485]|not provided [RCV000931528]|not specified [RCV000418189] Chr1:154575848 [GRCh38]
Chr1:154548324 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.1308C>T (p.Asp436=) single nucleotide variant not specified [RCV000431740] Chr1:154572131 [GRCh38]
Chr1:154544607 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.-37A>C single nucleotide variant not specified [RCV000439025] Chr1:154568008 [GRCh38]
Chr1:154540484 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.294G>A (p.Glu98=) single nucleotide variant not specified [RCV000439084] Chr1:154570296 [GRCh38]
Chr1:154542772 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.777A>T (p.Pro259=) single nucleotide variant not provided [RCV000991791]|not specified [RCV000442830] Chr1:154571600 [GRCh38]
Chr1:154544076 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.1128C>T (p.Leu376=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654356]|not specified [RCV000439302] Chr1:154571951 [GRCh38]
Chr1:154544427 [GRCh37]
Chr1:1q21.3
benign|likely benign
NM_000748.3(CHRNB2):c.109C>T (p.Leu37=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001088119]|not provided [RCV000711174]|not specified [RCV000422281] Chr1:154569506 [GRCh38]
Chr1:154541982 [GRCh37]
Chr1:1q21.3
benign|likely benign
NM_000748.3(CHRNB2):c.1320C>A (p.Ser440Arg) single nucleotide variant not provided [RCV000432638] Chr1:154572143 [GRCh38]
Chr1:154544619 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1249G>A (p.Gly417Arg) single nucleotide variant not specified [RCV000422501] Chr1:154572072 [GRCh38]
Chr1:154544548 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.348T>C (p.Asp116=) single nucleotide variant not specified [RCV000426104] Chr1:154570350 [GRCh38]
Chr1:154542826 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.702G>A (p.Pro234=) single nucleotide variant not provided [RCV000919422]|not specified [RCV000422778] Chr1:154571525 [GRCh38]
Chr1:154544001 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.*13T>C single nucleotide variant not specified [RCV000444302] Chr1:154575945 [GRCh38]
Chr1:154548421 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.825G>A (p.Ala275=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000865950]|not specified [RCV000426734] Chr1:154571648 [GRCh38]
Chr1:154544124 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.372C>T (p.Asp124=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000863289]|not specified [RCV000440825] Chr1:154571195 [GRCh38]
Chr1:154543671 [GRCh37]
Chr1:1q21.3
benign|likely benign
NM_000748.3(CHRNB2):c.1380C>T (p.Arg460=) single nucleotide variant not specified [RCV000444568] Chr1:154575803 [GRCh38]
Chr1:154548279 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.1339-16C>T single nucleotide variant not specified [RCV000423392] Chr1:154575746 [GRCh38]
Chr1:154548222 [GRCh37]
Chr1:1q21.3
benign
NM_000748.3(CHRNB2):c.1287C>T (p.Asp429=) single nucleotide variant not specified [RCV000437444] Chr1:154572110 [GRCh38]
Chr1:154544586 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.1087C>T (p.Leu363=) single nucleotide variant not specified [RCV000441236] Chr1:154571910 [GRCh38]
Chr1:154544386 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.*472G>A single nucleotide variant nicotine response - Efficacy, Toxicity/ADR [RCV000417150] Chr1:154576404 [GRCh38]
Chr1:154548880 [GRCh37]
Chr1:1q21.3
drug response
NM_000748.3(CHRNB2):c.78G>A (p.Thr26=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000466506]|not provided [RCV000991792] Chr1:154569475 [GRCh38]
Chr1:154541951 [GRCh37]
Chr1:1q21.3
benign|uncertain significance
NM_000748.3(CHRNB2):c.1236C>T (p.Gly412=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001083355]|not provided [RCV000732586]|not specified [RCV000599978] Chr1:154572059 [GRCh38]
Chr1:154544535 [GRCh37]
Chr1:1q21.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000748.3(CHRNB2):c.1232C>A (p.Ala411Glu) single nucleotide variant not provided [RCV000479753] Chr1:154572055 [GRCh38]
Chr1:154544531 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1273C>T (p.Arg425Trp) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001059051]|not provided [RCV000480382] Chr1:154572096 [GRCh38]
Chr1:154544572 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.938T>C (p.Val313Ala) single nucleotide variant not provided [RCV000484907] Chr1:154571761 [GRCh38]
Chr1:154544237 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1204G>A (p.Ala402Thr) single nucleotide variant not provided [RCV000484975] Chr1:154572027 [GRCh38]
Chr1:154544503 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1291G>C (p.Val431Leu) single nucleotide variant Epilepsy, nocturnal frontal lobe, type 3 [RCV000626232]|not provided [RCV000485682] Chr1:154572114 [GRCh38]
Chr1:154544590 [GRCh37]
Chr1:1q21.3
likely pathogenic|uncertain significance
NM_000748.3(CHRNB2):c.1117G>A (p.Ala373Thr) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001227485]|not provided [RCV000486268] Chr1:154571940 [GRCh38]
Chr1:154544416 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.277A>T (p.Thr93Ser) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001244619]|not provided [RCV000482418] Chr1:154570279 [GRCh38]
Chr1:154542755 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.404C>T (p.Ala135Val) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000465543] Chr1:154571227 [GRCh38]
Chr1:154543703 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1295G>T (p.Arg432Leu) single nucleotide variant not provided [RCV000478029] Chr1:154572118 [GRCh38]
Chr1:154544594 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.122G>A (p.Arg41His) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001034226]|not provided [RCV000486786] Chr1:154569519 [GRCh38]
Chr1:154541995 [GRCh37]
Chr1:1q21.3
likely benign|uncertain significance
NM_000748.3(CHRNB2):c.394T>C (p.Tyr132His) single nucleotide variant not provided [RCV000486991] Chr1:154571217 [GRCh38]
Chr1:154543693 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.691C>T (p.Arg231Cys) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000473571]|not provided [RCV000991790] Chr1:154571514 [GRCh38]
Chr1:154543990 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.97G>A (p.Val33Met) single nucleotide variant not provided [RCV000483058] Chr1:154569494 [GRCh38]
Chr1:154541970 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1339-6A>T single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000462498] Chr1:154575756 [GRCh38]
Chr1:154548232 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.1199C>A (p.Ala400Asp) single nucleotide variant not provided [RCV000479001] Chr1:154572022 [GRCh38]
Chr1:154544498 [GRCh37]
Chr1:1q21.3
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_000748.3(CHRNB2):c.632G>A (p.Arg211Gln) single nucleotide variant not provided [RCV000498269] Chr1:154571455 [GRCh38]
Chr1:154543931 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1338+3G>T single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000689334]|Epilepsy, nocturnal frontal lobe, type 3 [RCV000764979]|not provided [RCV000493584] Chr1:154572164 [GRCh38]
Chr1:154544640 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.105T>A (p.His35Gln) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654321]|not provided [RCV000494473] Chr1:154569502 [GRCh38]
Chr1:154541978 [GRCh37]
Chr1:1q21.3
benign|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_001111.5(ADAR):c.*1728C>T single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000366017] Chr1:154583078 [GRCh38]
Chr1:154555554 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*898G>A single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000345964] Chr1:154583908 [GRCh38]
Chr1:154556384 [GRCh37]
Chr1:1q21.3
benign|likely benign
NM_001111.5(ADAR):c.*527A>G single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000357326] Chr1:154584279 [GRCh38]
Chr1:154556755 [GRCh37]
Chr1:1q21.3
uncertain significance
Single allele inversion Pediatric metastatic thyroid tumour [RCV000585807] Chr1:154130985..156843877 [GRCh37]
Chr1:1q21.3-23.1
likely pathogenic
NM_000748.3(CHRNB2):c.790G>A (p.Glu264Lys) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000558447] Chr1:154571613 [GRCh38]
Chr1:154544089 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*714G>A single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000261276] Chr1:154584092 [GRCh38]
Chr1:154556568 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*1242A>C single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000330411] Chr1:154583564 [GRCh38]
Chr1:154556040 [GRCh37]
Chr1:1q21.3
benign
NM_001111.5(ADAR):c.*1397C>T single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000374559] Chr1:154583409 [GRCh38]
Chr1:154555885 [GRCh37]
Chr1:1q21.3
likely benign
NM_001111.5(ADAR):c.*503_*505del deletion Symmetrical dyschromatosis of extremities [RCV000388271] Chr1:154584301..154584303 [GRCh38]
Chr1:154556777..154556779 [GRCh37]
Chr1:1q21.3
likely benign
NM_001111.5(ADAR):c.*206T>G single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000298161] Chr1:154584600 [GRCh38]
Chr1:154557076 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*943C>A single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000403697] Chr1:154583863 [GRCh38]
Chr1:154556339 [GRCh37]
Chr1:1q21.3
benign
NM_001111.5(ADAR):c.*2623C>T single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000311423] Chr1:154582183 [GRCh38]
Chr1:154554659 [GRCh37]
Chr1:1q21.3
benign|likely benign
NM_001111.5(ADAR):c.*1406A>C single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000317568] Chr1:154583400 [GRCh38]
Chr1:154555876 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1379G>A (p.Arg460His) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000555604] Chr1:154575802 [GRCh38]
Chr1:154548278 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*749G>A single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000354012] Chr1:154584057 [GRCh38]
Chr1:154556533 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*1549T>A single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000361567] Chr1:154583257 [GRCh38]
Chr1:154555733 [GRCh37]
Chr1:1q21.3
benign
NM_001111.5(ADAR):c.*1436G>T single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000259858] Chr1:154583370 [GRCh38]
Chr1:154555846 [GRCh37]
Chr1:1q21.3
benign|likely benign
NM_000748.3(CHRNB2):c.1242G>C (p.Gly414=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000983304]|not specified [RCV000602407] Chr1:154572065 [GRCh38]
Chr1:154544541 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.841C>T (p.Leu281=) single nucleotide variant not specified [RCV000610591] Chr1:154571664 [GRCh38]
Chr1:154544140 [GRCh37]
Chr1:1q21.3
likely benign
NM_001111.5(ADAR):c.*323G>C single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000392433] Chr1:154584483 [GRCh38]
Chr1:154556959 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.788G>A (p.Gly263Asp) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654296] Chr1:154571611 [GRCh38]
Chr1:154544087 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1231G>C (p.Ala411Pro) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654311] Chr1:154572054 [GRCh38]
Chr1:154544530 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.154G>A (p.Gly52Ser) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654322] Chr1:154569551 [GRCh38]
Chr1:154542027 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.734del (p.Cys245fs) deletion Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654324]|Seizures [RCV000716778] Chr1:154571557 [GRCh38]
Chr1:154544033 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.991A>G (p.Met331Val) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654328] Chr1:154571814 [GRCh38]
Chr1:154544290 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.708C>T (p.Phe236=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654340] Chr1:154571531 [GRCh38]
Chr1:154544007 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.912C>A (p.Thr304=) single nucleotide variant not specified [RCV000611022] Chr1:154571735 [GRCh38]
Chr1:154544211 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.1080C>A (p.Arg360=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654343] Chr1:154571903 [GRCh38]
Chr1:154544379 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.483C>T (p.His161=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000654348] Chr1:154571306 [GRCh38]
Chr1:154543782 [GRCh37]
Chr1:1q21.3
benign
NM_000748.3(CHRNB2):c.1253A>G (p.Glu418Gly) single nucleotide variant not specified [RCV000614072] Chr1:154572076 [GRCh38]
Chr1:154544552 [GRCh37]
Chr1:1q21.3
likely benign
NM_001111.5(ADAR):c.*317T>G single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000342770] Chr1:154584489 [GRCh38]
Chr1:154556965 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*110dup duplication Symmetrical dyschromatosis of extremities [RCV000336712] Chr1:154584695..154584696 [GRCh38]
Chr1:154557171..154557172 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*319del deletion Symmetrical dyschromatosis of extremities [RCV000285390] Chr1:154584487 [GRCh38]
Chr1:154556963 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*361C>G single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000347928] Chr1:154584445 [GRCh38]
Chr1:154556921 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*938A>C single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000288717] Chr1:154583868 [GRCh38]
Chr1:154556344 [GRCh37]
Chr1:1q21.3
benign|likely benign
NM_001111.5(ADAR):c.*844G>C single nucleotide variant Symmetrical dyschromatosis of extremities [RCV000359744] Chr1:154583962 [GRCh38]
Chr1:154556438 [GRCh37]
Chr1:1q21.3
likely benign
NM_001111.5(ADAR):c.*2323_*2330dup duplication Symmetrical dyschromatosis of extremities [RCV000405023] Chr1:154582475..154582476 [GRCh38]
Chr1:154554951..154554952 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.64+6G>C single nucleotide variant not provided [RCV000513543] Chr1:154568114 [GRCh38]
Chr1:154540590 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1180G>A (p.Ala394Thr) single nucleotide variant not provided [RCV000686593] Chr1:154572003 [GRCh38]
Chr1:154544479 [GRCh37]
Chr1:1q21.3
likely benign|uncertain significance
GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3 copy number gain not provided [RCV000684655] Chr1:150853044..154647786 [GRCh37]
Chr1:1q21.3
pathogenic
NM_000748.3(CHRNB2):c.255+6C>T single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000685100] Chr1:154569842 [GRCh38]
Chr1:154542318 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.106C>T (p.Leu36Phe) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000686345] Chr1:154569503 [GRCh38]
Chr1:154541979 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1319G>A (p.Ser440Asn) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000701217] Chr1:154572142 [GRCh38]
Chr1:154544618 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.515A>G (p.Lys172Arg) single nucleotide variant not provided [RCV000711177] Chr1:154571338 [GRCh38]
Chr1:154543814 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1372A>G (p.Ile458Val) single nucleotide variant not provided [RCV000705300] Chr1:154575795 [GRCh38]
Chr1:154548271 [GRCh37]
Chr1:1q21.3
likely benign|uncertain significance
NM_000748.3(CHRNB2):c.1034C>T (p.Ala345Val) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000705975] Chr1:154571857 [GRCh38]
Chr1:154544333 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1381C>T (p.Leu461Phe) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000699957] Chr1:154575804 [GRCh38]
Chr1:154548280 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1161C>A (p.Cys387Ter) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000700177] Chr1:154571984 [GRCh38]
Chr1:154544460 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1335G>C (p.Gln445His) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000701596] Chr1:154572158 [GRCh38]
Chr1:154544634 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.448A>G (p.Ile150Val) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000703921] Chr1:154571271 [GRCh38]
Chr1:154543747 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.968A>G (p.His323Arg) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000695307] Chr1:154571791 [GRCh38]
Chr1:154544267 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.892G>A (p.Gly298Ser) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000690456] Chr1:154571715 [GRCh38]
Chr1:154544191 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1157C>G (p.Ser386Cys) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000699241] Chr1:154571980 [GRCh38]
Chr1:154544456 [GRCh37]
Chr1:1q21.3
likely benign|uncertain significance
NM_000748.3(CHRNB2):c.539G>A (p.Arg180His) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000696556] Chr1:154571362 [GRCh38]
Chr1:154543838 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1257G>T (p.Pro419=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000866947]|Seizures [RCV000720786] Chr1:154572080 [GRCh38]
Chr1:154544556 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.222G>C (p.Glu74Asp) single nucleotide variant Seizures [RCV000720579] Chr1:154569803 [GRCh38]
Chr1:154542279 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1068C>A (p.Cys356Ter) single nucleotide variant Seizures [RCV000720415] Chr1:154571891 [GRCh38]
Chr1:154544367 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.149C>T (p.Thr50Ile) single nucleotide variant Seizures [RCV000720918] Chr1:154569546 [GRCh38]
Chr1:154542022 [GRCh37]
Chr1:1q21.3
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_000748.3(CHRNB2):c.318G>A (p.Arg106=) single nucleotide variant not provided [RCV000979792] Chr1:154570320 [GRCh38]
Chr1:154542796 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.1207T>G (p.Phe403Val) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001065354] Chr1:154572030 [GRCh38]
Chr1:154544506 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1315C>T (p.Arg439Trp) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001046243] Chr1:154572138 [GRCh38]
Chr1:154544614 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1281G>A (p.Ala427=) single nucleotide variant not provided [RCV000924801] Chr1:154572104 [GRCh38]
Chr1:154544580 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.30G>A (p.Leu10=) single nucleotide variant not provided [RCV000928591] Chr1:154568074 [GRCh38]
Chr1:154540550 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.648C>T (p.Pro216=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000869494] Chr1:154571471 [GRCh38]
Chr1:154543947 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.669C>T (p.Asp223=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000936727] Chr1:154571492 [GRCh38]
Chr1:154543968 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.1176C>T (p.Asn392=) single nucleotide variant not provided [RCV000866859] Chr1:154571999 [GRCh38]
Chr1:154544475 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.1182G>C (p.Ala394=) single nucleotide variant not provided [RCV000982615] Chr1:154572005 [GRCh38]
Chr1:154544481 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.210+10G>A single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000868767] Chr1:154569617 [GRCh38]
Chr1:154542093 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.1091G>A (p.Arg364Gln) single nucleotide variant not provided [RCV000870911] Chr1:154571914 [GRCh38]
Chr1:154544390 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.18C>G (p.Gly6=) single nucleotide variant not provided [RCV000920871] Chr1:154568062 [GRCh38]
Chr1:154540538 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.639C>T (p.Asn213=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000868043] Chr1:154571462 [GRCh38]
Chr1:154543938 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.315T>C (p.Val105=) single nucleotide variant not provided [RCV000929078] Chr1:154570317 [GRCh38]
Chr1:154542793 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.485T>C (p.Phe162Ser) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001058081] Chr1:154571308 [GRCh38]
Chr1:154543784 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.919C>A (p.Leu307Ile) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001043096] Chr1:154571742 [GRCh38]
Chr1:154544218 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1226C>T (p.Pro409Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001039894] Chr1:154572049 [GRCh38]
Chr1:154544525 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1035_1036delinsTT (p.Ala345_Leu346=) indel Autosomal dominant nocturnal frontal lobe epilepsy [RCV000940159] Chr1:154571858..154571859 [GRCh38]
Chr1:154544334..154544335 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.210+3G>A single nucleotide variant not provided [RCV000940313] Chr1:154569610 [GRCh38]
Chr1:154542086 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.240T>C (p.Asn80=) single nucleotide variant not provided [RCV000941257] Chr1:154569821 [GRCh38]
Chr1:154542297 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.1200C>G (p.Ala400=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000980256] Chr1:154572023 [GRCh38]
Chr1:154544499 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.615C>T (p.Ile205=) single nucleotide variant not provided [RCV000841757] Chr1:154571438 [GRCh38]
Chr1:154543914 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.1359C>G (p.Tyr453Ter) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000797133] Chr1:154575782 [GRCh38]
Chr1:154548258 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1035G>T (p.Ala345=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001088551]|not provided [RCV000840126] Chr1:154571858 [GRCh38]
Chr1:154544334 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.123C>T (p.Arg41=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000937982] Chr1:154569520 [GRCh38]
Chr1:154541996 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.1338+245A>G single nucleotide variant not provided [RCV000836887] Chr1:154572406 [GRCh38]
Chr1:154544882 [GRCh37]
Chr1:1q21.3
benign
NM_000748.3(CHRNB2):c.1221T>G (p.Pro407=) single nucleotide variant not provided [RCV000994109] Chr1:154572044 [GRCh38]
Chr1:154544520 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.-55C>T single nucleotide variant not provided [RCV000830018] Chr1:154567990 [GRCh38]
Chr1:154540466 [GRCh37]
Chr1:1q21.3
benign
NM_000748.3(CHRNB2):c.1338+25G>A single nucleotide variant not provided [RCV000830053] Chr1:154572186 [GRCh38]
Chr1:154544662 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.316C>T (p.Arg106Trp) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000805732] Chr1:154570318 [GRCh38]
Chr1:154542794 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1033G>A (p.Ala345Thr) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000792379] Chr1:154571856 [GRCh38]
Chr1:154544332 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.538C>T (p.Arg180Cys) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000792673] Chr1:154571361 [GRCh38]
Chr1:154543837 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.64+185G>A single nucleotide variant not provided [RCV000837236] Chr1:154568293 [GRCh38]
Chr1:154540769 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.-214A>G single nucleotide variant not provided [RCV000829922] Chr1:154567831 [GRCh38]
Chr1:154540307 [GRCh37]
Chr1:1q21.3
benign
NM_000748.3(CHRNB2):c.75T>C (p.Gly25=) single nucleotide variant not provided [RCV000828038] Chr1:154569472 [GRCh38]
Chr1:154541948 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.64+133A>G single nucleotide variant not provided [RCV000838788] Chr1:154568241 [GRCh38]
Chr1:154540717 [GRCh37]
Chr1:1q21.3
benign
NM_000748.3(CHRNB2):c.366-159A>G single nucleotide variant not provided [RCV000838789] Chr1:154571030 [GRCh38]
Chr1:154543506 [GRCh37]
Chr1:1q21.3
benign
NC_000001.11:g.154567749G>A single nucleotide variant not provided [RCV000832510] Chr1:154567749 [GRCh38]
Chr1:154540225 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.1153G>A (p.Asp385Asn) single nucleotide variant not provided [RCV000827115] Chr1:154571976 [GRCh38]
Chr1:154544452 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.1103G>T (p.Arg368Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000795141] Chr1:154571926 [GRCh38]
Chr1:154544402 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.17G>A (p.Gly6Asp) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000793568] Chr1:154568061 [GRCh38]
Chr1:154540537 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*885G>A single nucleotide variant Symmetrical dyschromatosis of extremities [RCV001098993] Chr1:154583921 [GRCh38]
Chr1:154556397 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.416A>C (p.Tyr139Ser) single nucleotide variant Focal clonic seizures [RCV001090182] Chr1:154571239 [GRCh38]
Chr1:154543715 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.983C>T (p.Thr328Met) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001065083] Chr1:154571806 [GRCh38]
Chr1:154544282 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.990C>T (p.Thr330=) single nucleotide variant not provided [RCV000860903] Chr1:154571813 [GRCh38]
Chr1:154544289 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.42C>T (p.Phe14=) single nucleotide variant not provided [RCV000917704] Chr1:154568086 [GRCh38]
Chr1:154540562 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.634C>T (p.Arg212Cys) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000797119] Chr1:154571457 [GRCh38]
Chr1:154543933 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.33C>G (p.Leu11=) single nucleotide variant not provided [RCV000937892] Chr1:154568077 [GRCh38]
Chr1:154540553 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.256-41C>T single nucleotide variant not provided [RCV000830019] Chr1:154570217 [GRCh38]
Chr1:154542693 [GRCh37]
Chr1:1q21.3
benign
NM_000748.3(CHRNB2):c.-51C>A single nucleotide variant not provided [RCV000832504] Chr1:154567994 [GRCh38]
Chr1:154540470 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.1116C>T (p.Gly372=) single nucleotide variant not provided [RCV000937191] Chr1:154571939 [GRCh38]
Chr1:154544415 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.1423A>C (p.Ile475Leu) single nucleotide variant not provided [RCV000994110] Chr1:154575846 [GRCh38]
Chr1:154548322 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.937G>A (p.Val313Ile) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001226794] Chr1:154571760 [GRCh38]
Chr1:154544236 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.460G>A (p.Ala154Thr) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001227324] Chr1:154571283 [GRCh38]
Chr1:154543759 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1344_1347del (p.Ser448fs) microsatellite Autosomal dominant nocturnal frontal lobe epilepsy [RCV001220711] Chr1:154575762..154575765 [GRCh38]
Chr1:154548238..154548241 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.306G>A (p.Met102Ile) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001209280] Chr1:154570308 [GRCh38]
Chr1:154542784 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1080CCTGCG[3] (p.361LR[3]) microsatellite Autosomal dominant nocturnal frontal lobe epilepsy [RCV001221236] Chr1:154571899..154571900 [GRCh38]
Chr1:154544375..154544376 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1244G>A (p.Arg415His) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001240034] Chr1:154572067 [GRCh38]
Chr1:154544543 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1459A>G (p.Thr487Ala) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001223721] Chr1:154575882 [GRCh38]
Chr1:154548358 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.217C>T (p.Arg73Trp) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001221512] Chr1:154569798 [GRCh38]
Chr1:154542274 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.930del (p.Ser311fs) deletion Autosomal dominant nocturnal frontal lobe epilepsy [RCV001238501] Chr1:154571753 [GRCh38]
Chr1:154544229 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.301A>G (p.Asn101Asp) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001211364] Chr1:154570303 [GRCh38]
Chr1:154542779 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1201G>A (p.Gly401Arg) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001212259] Chr1:154572024 [GRCh38]
Chr1:154544500 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.945C>T (p.Ser315=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001232809] Chr1:154571768 [GRCh38]
Chr1:154544244 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.96G>A (p.Leu32=) single nucleotide variant not provided [RCV000994107] Chr1:154569493 [GRCh38]
Chr1:154541969 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*1919T>G single nucleotide variant Symmetrical dyschromatosis of extremities [RCV001100709] Chr1:154582887 [GRCh38]
Chr1:154555363 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*1751T>G single nucleotide variant Symmetrical dyschromatosis of extremities [RCV001100711] Chr1:154583055 [GRCh38]
Chr1:154555531 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.405C>G (p.Ala135=) single nucleotide variant not provided [RCV000940309] Chr1:154571228 [GRCh38]
Chr1:154543704 [GRCh37]
Chr1:1q21.3
likely benign
NM_001111.5(ADAR):c.*1871A>G single nucleotide variant Symmetrical dyschromatosis of extremities [RCV001100710] Chr1:154582935 [GRCh38]
Chr1:154555411 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*590G>A single nucleotide variant Symmetrical dyschromatosis of extremities [RCV001100807] Chr1:154584216 [GRCh38]
Chr1:154556692 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*1614T>A single nucleotide variant Symmetrical dyschromatosis of extremities [RCV001100973] Chr1:154583192 [GRCh38]
Chr1:154555668 [GRCh37]
Chr1:1q21.3
benign
NM_000748.3(CHRNB2):c.1111G>A (p.Glu371Lys) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001237250] Chr1:154571934 [GRCh38]
Chr1:154544410 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.974C>T (p.Ser325Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001217378] Chr1:154571797 [GRCh38]
Chr1:154544273 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1126C>T (p.Leu376Phe) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001244275] Chr1:154571949 [GRCh38]
Chr1:154544425 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.138C>T (p.Ile46=) single nucleotide variant not provided [RCV000934144] Chr1:154569535 [GRCh38]
Chr1:154542011 [GRCh37]
Chr1:1q21.3
likely benign
NM_001111.5(ADAR):c.*1336A>G single nucleotide variant Symmetrical dyschromatosis of extremities [RCV001097235] Chr1:154583470 [GRCh38]
Chr1:154555946 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*1221C>T single nucleotide variant Symmetrical dyschromatosis of extremities [RCV001097237] Chr1:154583585 [GRCh38]
Chr1:154556061 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*2033G>A single nucleotide variant Symmetrical dyschromatosis of extremities [RCV001100708] Chr1:154582773 [GRCh38]
Chr1:154555249 [GRCh37]
Chr1:1q21.3
benign
NM_001111.5(ADAR):c.*2643G>A single nucleotide variant Symmetrical dyschromatosis of extremities [RCV001098885] Chr1:154582163 [GRCh38]
Chr1:154554639 [GRCh37]
Chr1:1q21.3
benign
NM_001111.5(ADAR):c.*2636G>A single nucleotide variant Symmetrical dyschromatosis of extremities [RCV001098886] Chr1:154582170 [GRCh38]
Chr1:154554646 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*989C>T single nucleotide variant Symmetrical dyschromatosis of extremities [RCV001098992] Chr1:154583817 [GRCh38]
Chr1:154556293 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*2134T>C single nucleotide variant Symmetrical dyschromatosis of extremities [RCV001100707] Chr1:154582672 [GRCh38]
Chr1:154555148 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*1454C>G single nucleotide variant Symmetrical dyschromatosis of extremities [RCV001100974] Chr1:154583352 [GRCh38]
Chr1:154555828 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.213T>G (p.His71Gln) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001034015] Chr1:154569794 [GRCh38]
Chr1:154542270 [GRCh37]
Chr1:1q21.3
likely benign
NM_000748.3(CHRNB2):c.65-2del deletion Autosomal dominant nocturnal frontal lobe epilepsy [RCV001211887] Chr1:154569460 [GRCh38]
Chr1:154541936 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1176C>A (p.Asn392Lys) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001219785] Chr1:154571999 [GRCh38]
Chr1:154544475 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.175C>T (p.Gln59Ter) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001218832] Chr1:154569572 [GRCh38]
Chr1:154542048 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1442C>T (p.Pro481Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001208782] Chr1:154575865 [GRCh38]
Chr1:154548341 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.88G>A (p.Glu30Lys) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001247162] Chr1:154569485 [GRCh38]
Chr1:154541961 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*301C>T single nucleotide variant Symmetrical dyschromatosis of extremities [RCV001097330] Chr1:154584505 [GRCh38]
Chr1:154556981 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*1322A>G single nucleotide variant Symmetrical dyschromatosis of extremities [RCV001097236] Chr1:154583484 [GRCh38]
Chr1:154555960 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*1192C>T single nucleotide variant Symmetrical dyschromatosis of extremities [RCV001097238] Chr1:154583614 [GRCh38]
Chr1:154556090 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1115G>A (p.Gly372Asp) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001230959] Chr1:154571938 [GRCh38]
Chr1:154544414 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.149C>G (p.Thr50Ser) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001213060] Chr1:154569546 [GRCh38]
Chr1:154542022 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.620C>T (p.Ala207Val) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001234168] Chr1:154571443 [GRCh38]
Chr1:154543919 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1415T>C (p.Phe472Ser) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001205370] Chr1:154575838 [GRCh38]
Chr1:154548314 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.604G>A (p.Glu202Lys) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001218208] Chr1:154571427 [GRCh38]
Chr1:154543903 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*612A>T single nucleotide variant Symmetrical dyschromatosis of extremities [RCV001100806] Chr1:154584194 [GRCh38]
Chr1:154556670 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1375G>A (p.Asp459Asn) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001230005] Chr1:154575798 [GRCh38]
Chr1:154548274 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*2317C>T single nucleotide variant Symmetrical dyschromatosis of extremities [RCV001098887] Chr1:154582489 [GRCh38]
Chr1:154554965 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_001111.5(ADAR):c.*2153T>C single nucleotide variant Symmetrical dyschromatosis of extremities [RCV001098888] Chr1:154582653 [GRCh38]
Chr1:154555129 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.687C>G (p.Ile229Met) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001231660] Chr1:154571510 [GRCh38]
Chr1:154543986 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1058G>A (p.Arg353His) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001204255] Chr1:154571881 [GRCh38]
Chr1:154544357 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1423A>G (p.Ile475Val) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001038842] Chr1:154575846 [GRCh38]
Chr1:154548322 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.1040T>A (p.Leu347His) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001215932] Chr1:154571863 [GRCh38]
Chr1:154544339 [GRCh37]
Chr1:1q21.3
uncertain significance
NM_000748.3(CHRNB2):c.378G>A (p.Met126Ile) single nucleotide variant Seizures [RCV001256058] Chr1:154571201 [GRCh38]
Chr1:154543677 [GRCh37]
Chr1:1q21.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1962 AgrOrtholog
COSMIC CHRNB2 COSMIC
Ensembl Genes ENSG00000160716 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000357461 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000489703 UniProtKB/TrEMBL
  ENSP00000490203 UniProtKB/TrEMBL
  ENSP00000490474 UniProtKB/TrEMBL
Ensembl Transcript ENST00000368476 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000636034 UniProtKB/TrEMBL
  ENST00000636695 UniProtKB/TrEMBL
  ENST00000637900 UniProtKB/TrEMBL
Gene3D-CATH 2.70.170.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000160716 GTEx
HGNC ID HGNC:1962 ENTREZGENE
Human Proteome Map CHRNB2 Human Proteome Map
InterPro CHRNB2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neur_chan_lig-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neur_chan_lig-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neur_channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neuro-gated_channel_TM_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neurotrans-gated_channel_TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neurotransmitter_ion_chnl_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nicotinic_acetylcholine_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1141 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1141 ENTREZGENE
OMIM 118507 OMIM
  605375 OMIM
PANTHER PTHR18945 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR18945:SF80 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Neur_chan_LBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neur_chan_memb UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB CHRNB2 RGD, PharmGKB
PRINTS NICOTINICR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NRIONCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE NEUROTR_ION_CHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF63712 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF90112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs LIC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1B0GTH5_HUMAN UniProtKB/TrEMBL
  A0A1B0GUQ6_HUMAN UniProtKB/TrEMBL
  A0A1B0GVD7_HUMAN UniProtKB/TrEMBL
  ACHB2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5SXY3 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q9UEH9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 CHRNB2  cholinergic receptor nicotinic beta 2 subunit  CHRNB2  cholinergic receptor, nicotinic beta 2  Symbol and/or name change 5135510 APPROVED
2015-11-24 CHRNB2  cholinergic receptor, nicotinic beta 2  CHRNB2  cholinergic receptor, nicotinic, beta 2 (neuronal)  Symbol and/or name change 5135510 APPROVED