KCNJ8 (potassium inwardly rectifying channel subfamily J member 8) - Rat Genome Database

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Gene: KCNJ8 (potassium inwardly rectifying channel subfamily J member 8) Homo sapiens
Analyze
Symbol: KCNJ8
Name: potassium inwardly rectifying channel subfamily J member 8
RGD ID: 731904
HGNC Page HGNC:6269
Description: Enables ATP-activated inward rectifier potassium channel activity; voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential; and voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization. Involved in membrane repolarization during ventricular cardiac muscle cell action potential and potassium ion import across plasma membrane. Predicted to be located in myofibril and sarcolemma. Predicted to be part of potassium ion-transporting ATPase complex. Predicted to be active in glutamatergic synapse and presynaptic active zone membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ATP-sensitive inward rectifier potassium channel 8; inward rectifier K(+) channel Kir6.1; inwardly rectifying potassium channel KIR6.1; KIR6.1; potassium channel, inwardly rectifying subfamily J member 8; potassium channel, inwardly rectifying subfamily J, member 8; potassium inwardly-rectifying channel, subfamily J, member 8; potassium voltage-gated channel subfamily J member 8; uKATP-1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381221,764,955 - 21,774,706 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1221,764,955 - 21,775,600 (-)EnsemblGRCh38hg38GRCh38
GRCh371221,917,889 - 21,927,640 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361221,809,156 - 21,819,014 (-)NCBINCBI36Build 36hg18NCBI36
Build 341221,809,155 - 21,819,014NCBI
Celera1227,072,901 - 27,082,758 (-)NCBICelera
Cytogenetic Map12p12.1NCBI
HuRef1221,691,442 - 21,701,306 (-)NCBIHuRef
CHM1_11221,883,171 - 21,893,034 (-)NCBICHM1_1
T2T-CHM13v2.01221,643,637 - 21,653,388 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-methylcholine  (EXP)
2-palmitoylglycerol  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
acetamide  (ISO)
acetylcholine  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
ATP  (ISO)
benzo[a]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium dichloride  (EXP,ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cocaine  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
deguelin  (EXP)
dichlorine  (ISO)
diquat  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
formaldehyde  (ISO)
glafenine  (ISO)
glyburide  (EXP,ISO)
hydrogen peroxide  (EXP)
irinotecan  (ISO)
lead(0)  (EXP)
lipopolysaccharide  (ISO)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
methylseleninic acid  (EXP)
Muraglitazar  (ISO)
N-ethyl-N-nitrosourea  (ISO)
N-nitrosodimethylamine  (ISO)
nickel atom  (EXP)
nitrofen  (ISO)
oxaliplatin  (ISO)
oxidopamine  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
perfluorooctanoic acid  (ISO)
pirinixic acid  (EXP,ISO)
potassium atom  (ISO)
progesterone  (EXP)
rotenone  (EXP)
rubidium atom  (ISO)
sarin  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (ISO)
sodium disulfite  (ISO)
sodium fluoride  (ISO)
Soman  (ISO)
sulforaphane  (EXP)
sulfur dioxide  (ISO)
tamoxifen  (EXP,ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
troglitazone  (ISO)
undecane  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP)
vitamin E  (EXP)
vorinostat  (EXP)
zinc atom  (ISO)
zinc sulfate  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
action potential  (IEA,ISO)
adaptive immune response  (IEA,ISO)
apoptotic process  (IEA,ISO)
atrioventricular node cell differentiation  (IEA,ISO)
blood vessel development  (IEA,ISO)
calcium ion transmembrane transport  (IEA,ISO)
CAMKK-AMPK signaling cascade  (IEA,ISO)
cardiac pacemaker cell differentiation  (IEA,ISO)
cell population proliferation  (IEA,ISO)
circulatory system development  (IEA,ISO)
coronary vasculature development  (IEA,ISO)
defense response to virus  (IEA,ISO)
determination of adult lifespan  (IEA,ISO)
establishment of cell polarity  (IEA,ISO)
fat cell differentiation  (IEA,ISO)
fatty acid transport  (IEA,ISO)
fibroblast proliferation  (IEA,ISO)
gene expression  (IEA,ISO)
glutamate secretion, neurotransmission  (IEA,ISO)
heart development  (IEA,ISO)
heart morphogenesis  (IEA,ISO)
inflammatory response  (IEA,ISO)
inorganic cation transmembrane transport  (IEA,ISS)
kidney development  (IEA,ISO)
membrane repolarization during ventricular cardiac muscle cell action potential  (IMP)
microglial cell activation  (IEA,ISO)
monoatomic cation transmembrane transport  (IEA)
monoatomic ion transmembrane transport  (IEA)
nervous system process  (IEA,ISO)
neuromuscular process  (IEA,ISO)
NLRP3 inflammasome complex assembly  (IEA,ISO)
p38MAPK cascade  (IEA,ISO)
potassium ion import across plasma membrane  (IBA,IDA,IEA,ISO)
potassium ion transmembrane transport  (IEA,ISO,NAS)
potassium ion transport  (IEA,ISO,TAS)
protein secretion  (IEA,ISO)
reactive gliosis  (IEA,ISO)
regulation of blood pressure  (IEA,ISO)
regulation of cation channel activity  (ISO)
regulation of heart rate  (IEA,ISO)
regulation of monoatomic ion transmembrane transport  (IBA)
regulation of presynaptic membrane potential  (IEA)
response to ATP  (IEA,ISO)
response to cytokine  (IEA,ISO)
response to endoplasmic reticulum stress  (IEA,ISO)
response to exogenous dsRNA  (IEA,ISO)
response to hypoxia  (IEA,ISO)
response to insulin  (IEA,ISO)
response to ischemia  (IEA,ISO)
response to lipopolysaccharide  (IEA,ISO)
response to resveratrol  (IEA,ISO)
response to stress  (IEA,ISO)
response to xenobiotic stimulus  (IEA,ISO)
synaptic assembly at neuromuscular junction  (IEA,ISO)
transmission of nerve impulse  (IEA,ISO)
transport across blood-brain barrier  (NAS)
vasculature development  (IEA,ISO)
vasodilation  (IEA,ISO)
ventricular cardiac muscle tissue development  (IEA,ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
acebutolol pharmacodynamics pathway   (EXP)
adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway  (EXP)
amiodarone pharmacodynamics pathway  (EXP)
amlodipine pharmacodynamics pathway  (EXP)
atenolol pharmacodynamics pathway  (EXP)
betaxolol pharmacodynamics pathway  (EXP)
bisoprolol pharmacodynamics pathway  (EXP)
bupranolol drug pathway  (EXP)
bupranolol pharmacodynamics pathway  (EXP)
carvedilol pharmacodynamics pathway  (EXP)
diltiazem pharmacodynamics pathway  (EXP)
disopyramide pharmacodynamics pathway  (EXP)
dobutamine pharmacodynamics pathway  (EXP)
esmolol pharmacodynamics pathway  (EXP)
flecainde pharmacodynamics pathway  (EXP)
fosphenytoin pharmacodynamics pathway  (EXP)
ibutilide pharmacodynamics pathway  (EXP)
isoprenaline pharmacodynamics pathway  (EXP)
isradipine pharmacodynamics pathway  (EXP)
levobunolol pharmacodynamics pathway  (EXP)
lidocaine pharmacodynamics pathway  (EXP)
metoprolol pharmacodynamics pathway  (EXP)
mexiletine pharmacodynamics pathway  (EXP)
nadolol pharmacodynamics pathway  (EXP)
nebivolol pharmacodynamics pathway  (EXP)
nifedipine pharmacodynamics pathway  (EXP)
nimodipine pharmacodynamics pathway  (EXP)
nisoldipine pharmacodynamics pathway  (EXP)
nitrendipine pharmacodynamics pathway  (EXP)
penbutolol pharmacodynamics pathway  (EXP)
phenytoin pharmacodynamics pathway  (EXP)
pindolol pharmacodynamics pathway  (EXP)
procainamide pharmacodynamics pathway  (EXP)
propranolol pharmacodynamics pathway  (EXP)
quinidine pharmacodynamics pathway  (EXP)
sotalol pharmacodynamics pathway  (EXP)
timolol pharmacodynamics pathway  (EXP)
verapamil pharmacodynamics pathway  (EXP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Myocardial ischemia induces differential regulation of KATP channel gene expression in rat hearts. Akao M, etal., J Clin Invest. 1997 Dec 15;100(12):3053-9.
2. Absence of Kir6.1/KCNJ8 mutations in Italian patients with abnormal coronary vasomotion. Emanuele E, etal., Int J Mol Med. 2003 Oct;12(4):509-12.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Regulation of fibroblast growth factor-23 signaling by klotho. Kurosu H, etal., J Biol Chem. 2006 Mar 10;281(10):6120-3. Epub 2006 Jan 25.
5. K(ATP) channel gene expression is induced by urocortin and mediates its cardioprotective effect. Lawrence KM, etal., Circulation 2002 Sep 17;106(12):1556-62.
6. Mouse model of Prinzmetal angina by disruption of the inward rectifier Kir6.1. Miki T, etal., Nat Med. 2002 May;8(5):466-72.
7. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB 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
11. Regulation of ATP-sensitive potassium channel mRNA expression in rat kidney following ischemic injury. Sgard F, etal., Biochem Biophys Res Commun. 2000 Mar 16;269(2):618-22.
12. Studies of ATP-sensitive potassium channels on 6-hydroxydopamine and haloperidol rat models of Parkinson's disease: implications for treating Parkinson's disease? Wang S, etal., Neuropharmacology. 2005 Jun;48(7):984-92.
13. Effect of electronic stimulation at Neiguan (PC 6) acupoint on gene expression of adenosine triphosphate-sensitive potassium channel and protein kinases in rats with myocardial ischemia. Wang W, etal., J Tradit Chin Med. 2015 Oct;35(5):577-82.
14. Reopening of ATP-sensitive potassium channels reduces neuropathic pain and regulates astroglial gap junctions in the rat spinal cord. Wu XF, etal., Pain. 2011 Nov;152(11):2605-15. doi: 10.1016/j.pain.2011.08.003. Epub 2011 Sep 9.
15. A new ATP-sensitive potassium channel opener protects the kidney from hypertensive damage in spontaneously hypertensive rats. Xue H, etal., J Pharmacol Exp Ther. 2005 Nov;315(2):501-9. Epub 2005 Jul 28.
Additional References at PubMed
PMID:7890693   PMID:8595887   PMID:9434770   PMID:9573340   PMID:10516647   PMID:10559219   PMID:11007308   PMID:11136227   PMID:11160857   PMID:11825905   PMID:11956191   PMID:12217870  
PMID:12356945   PMID:12477932   PMID:12738227   PMID:12934053   PMID:15489334   PMID:15821440   PMID:16382105   PMID:16820413   PMID:16964409   PMID:17081983   PMID:18391953   PMID:18663158  
PMID:18945825   PMID:18996111   PMID:19139106   PMID:19952277   PMID:19959479   PMID:20301690   PMID:20558321   PMID:20624795   PMID:20847183   PMID:21418633   PMID:21836131   PMID:21873635  
PMID:22056721   PMID:22406554   PMID:22410194   PMID:22562657   PMID:22972803   PMID:23369859   PMID:23632791   PMID:24700710   PMID:25275207   PMID:26186194   PMID:28514442   PMID:28842488  
PMID:30280653   PMID:32100467   PMID:32215968   PMID:32296183   PMID:33846486   PMID:33961781   PMID:34711681  


Genomics

Comparative Map Data
KCNJ8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381221,764,955 - 21,774,706 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1221,764,955 - 21,775,600 (-)EnsemblGRCh38hg38GRCh38
GRCh371221,917,889 - 21,927,640 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361221,809,156 - 21,819,014 (-)NCBINCBI36Build 36hg18NCBI36
Build 341221,809,155 - 21,819,014NCBI
Celera1227,072,901 - 27,082,758 (-)NCBICelera
Cytogenetic Map12p12.1NCBI
HuRef1221,691,442 - 21,701,306 (-)NCBIHuRef
CHM1_11221,883,171 - 21,893,034 (-)NCBICHM1_1
T2T-CHM13v2.01221,643,637 - 21,653,388 (-)NCBIT2T-CHM13v2.0
Kcnj8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396142,510,563 - 142,517,340 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6142,510,563 - 142,517,340 (-)EnsemblGRCm39 Ensembl
GRCm386142,564,837 - 142,571,614 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6142,564,837 - 142,571,614 (-)EnsemblGRCm38mm10GRCm38
MGSCv376142,513,459 - 142,519,876 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366142,522,161 - 142,528,581 (-)NCBIMGSCv36mm8
Celera6145,626,686 - 145,633,104 (-)NCBICelera
Cytogenetic Map6G2NCBI
cM Map674.31NCBI
Kcnj8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84177,240,692 - 177,246,548 (-)NCBIGRCr8
mRatBN7.24175,508,908 - 175,515,829 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4175,508,912 - 175,515,603 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4181,804,515 - 181,810,357 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04177,588,783 - 177,594,629 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04176,209,354 - 176,215,202 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04176,783,287 - 176,789,143 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4176,782,498 - 176,789,304 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04240,996,986 - 241,003,081 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44180,144,084 - 180,149,935 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14180,388,422 - 180,395,042 (-)NCBI
Celera4164,042,167 - 164,048,023 (-)NCBICelera
Cytogenetic Map4q44NCBI
Kcnj8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541317,364,213 - 17,371,255 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541317,364,447 - 17,371,255 (-)NCBIChiLan1.0ChiLan1.0
KCNJ8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21075,026,276 - 75,036,939 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11275,022,673 - 75,033,355 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01264,522,172 - 64,532,848 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11267,126,584 - 67,137,128 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1267,127,263 - 67,137,128 (+)Ensemblpanpan1.1panPan2
KCNJ8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12725,368,565 - 25,375,754 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2725,368,810 - 25,375,009 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2720,985,001 - 20,992,186 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02725,588,424 - 25,595,600 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2725,588,452 - 25,595,598 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12725,386,897 - 25,394,078 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02725,410,445 - 25,417,631 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02721,155,847 - 21,163,033 (-)NCBIUU_Cfam_GSD_1.0
Kcnj8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494587,202,938 - 87,209,604 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365485,125,555 - 5,133,078 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365485,125,583 - 5,132,490 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNJ8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl551,696,188 - 51,703,813 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1551,695,927 - 51,704,402 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2554,978,919 - 54,987,396 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KCNJ8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11121,624,963 - 21,634,940 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1121,624,970 - 21,634,042 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606913,508,221 - 13,518,244 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kcnj8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475216,939,384 - 16,946,723 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475216,939,289 - 16,945,692 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KCNJ8
182 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004982.4(KCNJ8):c.967C>T (p.Arg323Cys) single nucleotide variant Brugada syndrome [RCV001964128] Chr12:21766031 [GRCh38]
Chr12:21918965 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.140A>G (p.His47Arg) single nucleotide variant not provided [RCV003325378] Chr12:21773477 [GRCh38]
Chr12:21926411 [GRCh37]
Chr12:12p12.1		 likely pathogenic
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22		 pathogenic
GRCh38/hg38 12p12.3-11.23(chr12:19295848-27012560)x1 copy number loss See cases [RCV000052782] Chr12:19295848..27012560 [GRCh38]
Chr12:19448782..27165493 [GRCh37]
Chr12:19340049..27056760 [NCBI36]
Chr12:12p12.3-11.23		 pathogenic
GRCh38/hg38 12p12.1-11.21(chr12:21771052-32222232)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052783]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052783]|See cases [RCV000052783] Chr12:21771052..32222232 [GRCh38]
Chr12:21923986..32375166 [GRCh37]
Chr12:21815253..32266433 [NCBI36]
Chr12:12p12.1-11.21		 pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p12.3-12.1(chr12:18252085-25696258)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053670]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053670]|See cases [RCV000053670] Chr12:18252085..25696258 [GRCh38]
Chr12:18405019..25849192 [GRCh37]
Chr12:18296286..25740459 [NCBI36]
Chr12:12p12.3-12.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
NM_004982.4(KCNJ8):c.-40G>A single nucleotide variant not specified [RCV000171004] Chr12:21773656 [GRCh38]
Chr12:21926590 [GRCh37]
Chr12:12p12.1		 benign
NM_004982.4(KCNJ8):c.-77G>A single nucleotide variant not specified [RCV000171005] Chr12:21774552 [GRCh38]
Chr12:21927486 [GRCh37]
Chr12:12p12.1		 benign
NM_004982.4(KCNJ8):c.263C>G (p.Ala88Gly) single nucleotide variant Brugada syndrome [RCV000474015]|Cardiovascular phenotype [RCV002453585]|Long QT syndrome [RCV003318359]|Syndromic disease [RCV002272156]|not provided [RCV000171006] Chr12:21773354 [GRCh38]
Chr12:21926288 [GRCh37]
Chr12:12p12.1		 likely benign|uncertain significance
NM_004982.4(KCNJ8):c.-66A>T single nucleotide variant not provided [RCV004706587]|not specified [RCV000126427] Chr12:21773682 [GRCh38]
Chr12:21926616 [GRCh37]
Chr12:12p12.1		 benign
NM_004982.4(KCNJ8):c.291C>G (p.Ala97=) single nucleotide variant Brugada syndrome [RCV000459771]|Cardiovascular phenotype [RCV000619579]|not provided [RCV004706588]|not specified [RCV000126428] Chr12:21773326 [GRCh38]
Chr12:21926260 [GRCh37]
Chr12:12p12.1		 benign
NM_004982.4(KCNJ8):c.1001T>C (p.Val334Ala) single nucleotide variant Brugada syndrome [RCV000474235]|Cardiovascular phenotype [RCV000619924]|SUDDEN INFANT DEATH SYNDROME [RCV000625194]|not provided [RCV004708033]|not specified [RCV000126429] Chr12:21765997 [GRCh38]
Chr12:21918931 [GRCh37]
Chr12:12p12.1		 benign|likely benign
NM_004982.4(KCNJ8):c.538A>G (p.Lys180Glu) single nucleotide variant Cardiovascular phenotype [RCV003182413] Chr12:21766460 [GRCh38]
Chr12:21919394 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.1265C>T (p.Ser422Leu) single nucleotide variant Brugada syndrome [RCV001085300]|Cardiovascular phenotype [RCV000621636]|Hypertrophic cardiomyopathy [RCV000852667]|KCNJ8-related disorder [RCV003927417]|not provided [RCV000144888] Chr12:21765733 [GRCh38]
Chr12:21918667 [GRCh37]
Chr12:12p12.1		 benign|likely benign|uncertain significance|not provided
NM_004982.4(KCNJ8):c.193G>A (p.Val65Met) single nucleotide variant not provided [RCV000144889] Chr12:21773424 [GRCh38]
Chr12:21926358 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.526T>A (p.Cys176Ser) single nucleotide variant not provided [RCV000144890] Chr12:21766472 [GRCh38]
Chr12:21919406 [GRCh37]
Chr12:12p12.1		 uncertain significance
GRCh38/hg38 12p12.3-12.1(chr12:19265334-25482589)x1 copy number loss See cases [RCV000135588] Chr12:19265334..25482589 [GRCh38]
Chr12:19418268..25635523 [GRCh37]
Chr12:19309535..25526790 [NCBI36]
Chr12:12p12.3-12.1		 likely pathogenic
GRCh38/hg38 12p12.3-12.1(chr12:15840854-22021652)x1 copy number loss See cases [RCV000135620] Chr12:15840854..22021652 [GRCh38]
Chr12:15993788..22174586 [GRCh37]
Chr12:15885055..22065853 [NCBI36]
Chr12:12p12.3-12.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
NM_004982.4(KCNJ8):c.1182G>C (p.Arg394Ser) single nucleotide variant Brugada syndrome [RCV000692088]|Cardiac arrhythmia [RCV001842498]|Cardiovascular phenotype [RCV002336343] Chr12:21765816 [GRCh38]
Chr12:21918750 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.821G>A (p.Arg274His) single nucleotide variant Brugada syndrome [RCV000197643]|Cardiovascular phenotype [RCV002408882] Chr12:21766177 [GRCh38]
Chr12:21919111 [GRCh37]
Chr12:12p12.1		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
NM_004982.4(KCNJ8):c.793T>C (p.Leu265=) single nucleotide variant Brugada syndrome [RCV000204491]|Cardiovascular phenotype [RCV000621796]|SUDDEN INFANT DEATH SYNDROME [RCV000625488]|not provided [RCV001657996]|not specified [RCV001699010] Chr12:21766205 [GRCh38]
Chr12:21919139 [GRCh37]
Chr12:12p12.1		 benign
NM_004982.4(KCNJ8):c.855G>A (p.Leu285=) single nucleotide variant Brugada syndrome [RCV000206018]|Cardiovascular phenotype [RCV000244148]|not provided [RCV001682917]|not specified [RCV003488461] Chr12:21766143 [GRCh38]
Chr12:21919077 [GRCh37]
Chr12:12p12.1		 benign
NM_004982.4(KCNJ8):c.83G>C (p.Arg28Pro) single nucleotide variant Brugada syndrome [RCV001853306]|Cardiac arrest [RCV000208382]|Cardiovascular phenotype [RCV002433916] Chr12:21773534 [GRCh38]
Chr12:21926468 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.720G>A (p.Val240=) single nucleotide variant Brugada syndrome [RCV001432692]|Cardiovascular phenotype [RCV002372239]|not specified [RCV000223792] Chr12:21766278 [GRCh38]
Chr12:21919212 [GRCh37]
Chr12:12p12.1		 likely benign|uncertain significance
NM_004982.4(KCNJ8):c.353C>T (p.Thr118Ile) single nucleotide variant Brugada syndrome 1 [RCV000496355]|Cardiovascular phenotype [RCV003278845] Chr12:21773264 [GRCh38]
Chr12:21926198 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.6G>T (p.Leu2Phe) single nucleotide variant Cardiovascular phenotype [RCV000251528] Chr12:21773611 [GRCh38]
Chr12:21926545 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.471G>C (p.Thr157=) single nucleotide variant Brugada syndrome [RCV001079136]|Cardiovascular phenotype [RCV000245470]|not provided [RCV000726102] Chr12:21766527 [GRCh38]
Chr12:21919461 [GRCh37]
Chr12:12p12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_004982.4(KCNJ8):c.382_383insT (p.Thr128fs) insertion not provided [RCV000585574] Chr12:21766615..21766616 [GRCh38]
Chr12:21919549..21919550 [GRCh37]
Chr12:12p12.1		 uncertain significance
GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1 copy number loss not provided [RCV002292878] Chr12:10853887..24103810 [GRCh37]
Chr12:12p13.2-12.1		 pathogenic
NM_004982.4(KCNJ8):c.189C>T (p.Thr63=) single nucleotide variant Brugada syndrome [RCV003539982]|not specified [RCV000606688] Chr12:21773428 [GRCh38]
Chr12:21926362 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.707C>G (p.Pro236Arg) single nucleotide variant Cardiovascular phenotype [RCV003182415] Chr12:21766291 [GRCh38]
Chr12:21919225 [GRCh37]
Chr12:12p12.1		 uncertain significance
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_004982.4(KCNJ8):c.507C>T (p.Ile169=) single nucleotide variant Brugada syndrome [RCV001080520]|Cardiovascular phenotype [RCV000621500]|KCNJ8-related disorder [RCV003922710]|not specified [RCV000438561] Chr12:21766491 [GRCh38]
Chr12:21919425 [GRCh37]
Chr12:12p12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004982.4(KCNJ8):c.138G>T (p.Ala46=) single nucleotide variant Brugada syndrome [RCV001421979]|Cardiovascular phenotype [RCV002393028]|not specified [RCV000438682] Chr12:21773479 [GRCh38]
Chr12:21926413 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.54C>T (p.Ala18=) single nucleotide variant not specified [RCV000425169] Chr12:21773563 [GRCh38]
Chr12:21926497 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.1036G>A (p.Val346Ile) single nucleotide variant Brugada syndrome [RCV001472777]|Cardiovascular phenotype [RCV002395244]|not specified [RCV000522667] Chr12:21765962 [GRCh38]
Chr12:21918896 [GRCh37]
Chr12:12p12.1		 likely benign|uncertain significance
NM_004982.4(KCNJ8):c.465C>T (p.Ala155=) single nucleotide variant Cardiovascular phenotype [RCV004022344]|not specified [RCV000443720] Chr12:21766533 [GRCh38]
Chr12:21919467 [GRCh37]
Chr12:12p12.1		 likely benign
GRCh37/hg19 12p12.3-11.23(chr12:18037107-26681362)x3 copy number gain See cases [RCV000446008] Chr12:18037107..26681362 [GRCh37]
Chr12:12p12.3-11.23		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_004982.4(KCNJ8):c.1066C>A (p.Arg356=) single nucleotide variant Brugada syndrome [RCV000467268] Chr12:21765932 [GRCh38]
Chr12:21918866 [GRCh37]
Chr12:12p12.1		 likely benign
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1		 likely pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22		 pathogenic
NM_004982.4(KCNJ8):c.111C>T (p.Ile37=) single nucleotide variant Brugada syndrome [RCV000638796]|Cardiovascular phenotype [RCV002440259]|not provided [RCV001766366] Chr12:21773506 [GRCh38]
Chr12:21926440 [GRCh37]
Chr12:12p12.1		 benign|likely benign
NM_004982.4(KCNJ8):c.897G>A (p.Val299=) single nucleotide variant Brugada syndrome [RCV000862777]|Cardiovascular phenotype [RCV000618777]|not provided [RCV001697409] Chr12:21766101 [GRCh38]
Chr12:21919035 [GRCh37]
Chr12:12p12.1		 benign|likely benign
NM_004982.4(KCNJ8):c.112G>T (p.Ala38Ser) single nucleotide variant Brugada syndrome [RCV000638719] Chr12:21773505 [GRCh38]
Chr12:21926439 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.1266G>A (p.Ser422=) single nucleotide variant Brugada syndrome [RCV002064317]|Cardiovascular phenotype [RCV002377316]|not specified [RCV000609730] Chr12:21765732 [GRCh38]
Chr12:21918666 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.471G>A (p.Thr157=) single nucleotide variant Brugada syndrome [RCV000862875]|Cardiovascular phenotype [RCV000619265]|not provided [RCV001697887] Chr12:21766527 [GRCh38]
Chr12:21919461 [GRCh37]
Chr12:12p12.1		 benign|likely benign
NM_004982.4(KCNJ8):c.1050T>C (p.Ala350=) single nucleotide variant Cardiovascular phenotype [RCV003293384] Chr12:21765948 [GRCh38]
Chr12:21918882 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.1203C>T (p.Asn401=) single nucleotide variant Cardiovascular phenotype [RCV003302121] Chr12:21765795 [GRCh38]
Chr12:21918729 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.-88_-87delinsTT indel not specified [RCV000611487] Chr12:21774562..21774563 [GRCh38]
Chr12:21927496..21927497 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.88C>A (p.Arg30Ser) single nucleotide variant Brugada syndrome [RCV001365713]|Cardiovascular phenotype [RCV000620006] Chr12:21773529 [GRCh38]
Chr12:21926463 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.588T>C (p.His196=) single nucleotide variant Brugada syndrome [RCV000638820]|Cardiovascular phenotype [RCV002358801] Chr12:21766410 [GRCh38]
Chr12:21919344 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.1192_1209dup (p.Ile398_Ser403dup) duplication Cardiovascular phenotype [RCV000621922] Chr12:21765788..21765789 [GRCh38]
Chr12:21918722..21918723 [GRCh37]
Chr12:12p12.1		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p12.1(chr12:21755837-22023573)x3 copy number gain not provided [RCV000683414] Chr12:21755837..22023573 [GRCh37]
Chr12:12p12.1		 likely benign|uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
NM_004982.4(KCNJ8):c.719T>C (p.Val240Ala) single nucleotide variant Brugada syndrome [RCV000695087]|Cardiovascular phenotype [RCV002369882] Chr12:21766279 [GRCh38]
Chr12:21919213 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.591T>A (p.Ala197=) single nucleotide variant Brugada syndrome [RCV000695089]|Cardiovascular phenotype [RCV002352154] Chr12:21766407 [GRCh38]
Chr12:21919341 [GRCh37]
Chr12:12p12.1		 likely benign|uncertain significance
NM_004982.4(KCNJ8):c.137C>T (p.Ala46Val) single nucleotide variant Brugada syndrome [RCV000704814] Chr12:21773480 [GRCh38]
Chr12:21926414 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.119G>C (p.Ser40Thr) single nucleotide variant Cardiovascular phenotype [RCV004263152] Chr12:21773498 [GRCh38]
Chr12:21926432 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.727A>G (p.Ile243Val) single nucleotide variant Cardiovascular phenotype [RCV003182411] Chr12:21766271 [GRCh38]
Chr12:21919205 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.55G>T (p.Ala19Ser) single nucleotide variant Cardiovascular phenotype [RCV003182412] Chr12:21773562 [GRCh38]
Chr12:21926496 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.820C>T (p.Arg274Cys) single nucleotide variant Brugada syndrome [RCV000999614]|Brugada syndrome [RCV001858902]|Cardiovascular phenotype [RCV002427451] Chr12:21766178 [GRCh38]
Chr12:21919112 [GRCh37]
Chr12:12p12.1		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21		 pathogenic
NM_004982.4(KCNJ8):c.1194C>G (p.Ile398Met) single nucleotide variant Hypertrophic cardiomyopathy [RCV000852668] Chr12:21765804 [GRCh38]
Chr12:21918738 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.*255T>A single nucleotide variant not provided [RCV001691863] Chr12:21765468 [GRCh38]
Chr12:21918402 [GRCh37]
Chr12:12p12.1		 benign
NM_004982.4(KCNJ8):c.870G>A (p.Leu290=) single nucleotide variant Brugada syndrome [RCV001457325]|Cardiovascular phenotype [RCV002372524] Chr12:21766128 [GRCh38]
Chr12:21919062 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.1218G>A (p.Met406Ile) single nucleotide variant Brugada syndrome [RCV000818310] Chr12:21765780 [GRCh38]
Chr12:21918714 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.1070A>G (p.Glu357Gly) single nucleotide variant Brugada syndrome [RCV000808286] Chr12:21765928 [GRCh38]
Chr12:21918862 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.1166A>G (p.Asn389Ser) single nucleotide variant Brugada syndrome [RCV000823161]|Cardiovascular phenotype [RCV002332718] Chr12:21765832 [GRCh38]
Chr12:21918766 [GRCh37]
Chr12:12p12.1		 uncertain significance
GRCh37/hg19 12p12.3-12.1(chr12:19762818-22659824)x1 copy number loss not provided [RCV000846444] Chr12:19762818..22659824 [GRCh37]
Chr12:12p12.3-12.1		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_004982.4(KCNJ8):c.243C>T (p.Leu81=) single nucleotide variant Brugada syndrome [RCV001466796] Chr12:21773374 [GRCh38]
Chr12:21926308 [GRCh37]
Chr12:12p12.1		 likely benign
GRCh37/hg19 12p12.3-11.23(chr12:16141429-27733325)x1 copy number loss not provided [RCV000849815] Chr12:16141429..27733325 [GRCh37]
Chr12:12p12.3-11.23		 pathogenic
NM_004982.4(KCNJ8):c.1145A>G (p.Lys382Arg) single nucleotide variant Brugada syndrome [RCV001225347]|Cardiovascular phenotype [RCV003353223] Chr12:21765853 [GRCh38]
Chr12:21918787 [GRCh37]
Chr12:12p12.1		 uncertain significance
NC_000012.11:g.(?_20522219)_(22089608_?)dup duplication not provided [RCV003105374] Chr12:20522219..22089608 [GRCh37]
Chr12:12p12.2-12.1		 uncertain significance
NM_004982.4(KCNJ8):c.-70-247_-70-244del deletion not provided [RCV001678974] Chr12:21773930..21773933 [GRCh38]
Chr12:21926864..21926867 [GRCh37]
Chr12:12p12.1		 benign
NM_004982.4(KCNJ8):c.1056G>A (p.Arg352=) single nucleotide variant Cardiovascular phenotype [RCV003293385] Chr12:21765942 [GRCh38]
Chr12:21918876 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.12A>G (p.Arg4=) single nucleotide variant Brugada syndrome [RCV000932349] Chr12:21773605 [GRCh38]
Chr12:21926539 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.405T>C (p.Ile135=) single nucleotide variant not provided [RCV000930400] Chr12:21766593 [GRCh38]
Chr12:21919527 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.807C>T (p.His269=) single nucleotide variant Brugada syndrome [RCV003655327]|Cardiovascular phenotype [RCV002416057] Chr12:21766191 [GRCh38]
Chr12:21919125 [GRCh37]
Chr12:12p12.1		 likely benign
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
NM_004982.4(KCNJ8):c.-71+196dup duplication not provided [RCV001596722] Chr12:21774330..21774331 [GRCh38]
Chr12:21927264..21927265 [GRCh37]
Chr12:12p12.1		 benign
NM_004982.4(KCNJ8):c.-71+214_-71+215del deletion not provided [RCV001671325] Chr12:21774331..21774332 [GRCh38]
Chr12:21927265..21927266 [GRCh37]
Chr12:12p12.1		 benign
GRCh37/hg19 12p12.1(chr12:21582333-24920271)x1 copy number loss not provided [RCV001258515] Chr12:21582333..24920271 [GRCh37]
Chr12:12p12.1		 pathogenic
NM_004982.4(KCNJ8):c.778T>C (p.Phe260Leu) single nucleotide variant Brugada syndrome [RCV001319694] Chr12:21766220 [GRCh38]
Chr12:21919154 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.786G>A (p.Val262=) single nucleotide variant Brugada syndrome [RCV001317600] Chr12:21766212 [GRCh38]
Chr12:21919146 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.1176G>A (p.Met392Ile) single nucleotide variant Brugada syndrome [RCV001340711] Chr12:21765822 [GRCh38]
Chr12:21918756 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.601G>A (p.Val201Ile) single nucleotide variant Brugada syndrome [RCV001327454]|KCNJ8-related disorder [RCV004758159] Chr12:21766397 [GRCh38]
Chr12:21919331 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.1232A>C (p.Gln411Pro) single nucleotide variant Brugada syndrome [RCV001315931]|Cardiovascular phenotype [RCV004034380] Chr12:21765766 [GRCh38]
Chr12:21918700 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.701C>T (p.Thr234Ile) single nucleotide variant Brugada syndrome [RCV001341106] Chr12:21766297 [GRCh38]
Chr12:21919231 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.306T>C (p.Tyr102=) single nucleotide variant Brugada syndrome [RCV001485035] Chr12:21773311 [GRCh38]
Chr12:21926245 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.1257A>G (p.Gln419=) single nucleotide variant Brugada syndrome [RCV001480859] Chr12:21765741 [GRCh38]
Chr12:21918675 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.36T>C (p.Tyr12=) single nucleotide variant Brugada syndrome [RCV001480273] Chr12:21773581 [GRCh38]
Chr12:21926515 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.198C>T (p.Asp66=) single nucleotide variant Brugada syndrome [RCV001443218] Chr12:21773419 [GRCh38]
Chr12:21926353 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.45G>A (p.Ala15=) single nucleotide variant Brugada syndrome [RCV001454632] Chr12:21773572 [GRCh38]
Chr12:21926506 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.144G>A (p.Lys48=) single nucleotide variant Brugada syndrome [RCV001501276]|Cardiovascular phenotype [RCV002388545] Chr12:21773473 [GRCh38]
Chr12:21926407 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.-71+166dup duplication not provided [RCV001759262] Chr12:21774379..21774380 [GRCh38]
Chr12:21927313..21927314 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.-70-11C>T single nucleotide variant not provided [RCV001757609] Chr12:21773697 [GRCh38]
Chr12:21926631 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.-71+215del deletion not provided [RCV001753082] Chr12:21774331 [GRCh38]
Chr12:21927265 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.375-168C>G single nucleotide variant not provided [RCV001753122] Chr12:21766791 [GRCh38]
Chr12:21919725 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.1055G>T (p.Arg352Leu) single nucleotide variant Brugada syndrome [RCV001895850] Chr12:21765943 [GRCh38]
Chr12:21918877 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.332A>G (p.Glu111Gly) single nucleotide variant Brugada syndrome [RCV001896671]|Cardiovascular phenotype [RCV002324296]|Hypertrichotic osteochondrodysplasia Cantu type [RCV002272525]|KCNJ8-related disorder [RCV003913439]|not provided [RCV003228016] Chr12:21773285 [GRCh38]
Chr12:21926219 [GRCh37]
Chr12:12p12.1		 benign|uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) copy number gain not specified [RCV002052957] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_004982.4(KCNJ8):c.980T>C (p.Ile327Thr) single nucleotide variant Brugada syndrome [RCV001910925]|Cardiovascular phenotype [RCV004039164] Chr12:21766018 [GRCh38]
Chr12:21918952 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.1196G>A (p.Arg399Gln) single nucleotide variant Brugada syndrome [RCV001986000]|Cardiovascular phenotype [RCV002344160] Chr12:21765802 [GRCh38]
Chr12:21918736 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.760A>G (p.Ile254Val) single nucleotide variant Brugada syndrome [RCV002006660]|Cardiovascular phenotype [RCV002389024] Chr12:21766238 [GRCh38]
Chr12:21919172 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.71_79dup (p.Lys24_Arg26dup) duplication Brugada syndrome [RCV001910317] Chr12:21773537..21773538 [GRCh38]
Chr12:21926471..21926472 [GRCh37]
Chr12:12p12.1		 uncertain significance
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) copy number gain not specified [RCV002052955] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) copy number gain not specified [RCV002052958] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p12.3-11.23(chr12:17884992-26704895) copy number gain not specified [RCV002052974] Chr12:17884992..26704895 [GRCh37]
Chr12:12p12.3-11.23		 pathogenic
GRCh37/hg19 12p12.1(chr12:21759357-22017890) copy number gain not specified [RCV002052980] Chr12:21759357..22017890 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.88C>T (p.Arg30Cys) single nucleotide variant Brugada syndrome [RCV001965249]|Cardiovascular phenotype [RCV002370575] Chr12:21773529 [GRCh38]
Chr12:21926463 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.353C>G (p.Thr118Ser) single nucleotide variant Brugada syndrome [RCV001890448]|Cardiovascular phenotype [RCV003164288] Chr12:21773264 [GRCh38]
Chr12:21926198 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.583C>T (p.Arg195Cys) single nucleotide variant Brugada syndrome [RCV001904238] Chr12:21766415 [GRCh38]
Chr12:21919349 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.1148G>A (p.Arg383His) single nucleotide variant Brugada syndrome [RCV001990249] Chr12:21765850 [GRCh38]
Chr12:21918784 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.1054C>T (p.Arg352Trp) single nucleotide variant Brugada syndrome [RCV001990373]|Cardiovascular phenotype [RCV002407205] Chr12:21765944 [GRCh38]
Chr12:21918878 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.290C>A (p.Ala97Asp) single nucleotide variant Brugada syndrome [RCV002050017] Chr12:21773327 [GRCh38]
Chr12:21926261 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.676C>T (p.Arg226Cys) single nucleotide variant Brugada syndrome [RCV001875650]|Cardiovascular phenotype [RCV002361169] Chr12:21766322 [GRCh38]
Chr12:21919256 [GRCh37]
Chr12:12p12.1		 uncertain significance
NC_000012.11:g.(?_21590665)_(22089608_?)del deletion Dilated cardiomyopathy 1O [RCV001920617] Chr12:21590665..22089608 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.1179_1196dup (p.Ile398_Ser403dup) duplication Brugada syndrome [RCV001916713] Chr12:21765801..21765802 [GRCh38]
Chr12:21918735..21918736 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.76C>T (p.Arg26Cys) single nucleotide variant Brugada syndrome [RCV001916945] Chr12:21773541 [GRCh38]
Chr12:21926475 [GRCh37]
Chr12:12p12.1		 uncertain significance
NC_000012.11:g.(?_21590665)_(22089608_?)dup duplication Dilated cardiomyopathy 1O [RCV001958184]|not provided [RCV001958183] Chr12:21590665..22089608 [GRCh37]
Chr12:12p12.1		 uncertain significance|no classifications from unflagged records
NM_004982.4(KCNJ8):c.94C>T (p.Pro32Ser) single nucleotide variant Brugada syndrome [RCV001924948] Chr12:21773523 [GRCh38]
Chr12:21926457 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.636G>A (p.Val212=) single nucleotide variant Brugada syndrome [RCV002018837] Chr12:21766362 [GRCh38]
Chr12:21919296 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.819G>A (p.Lys273=) single nucleotide variant Brugada syndrome [RCV002145828] Chr12:21766179 [GRCh38]
Chr12:21919113 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.969C>A (p.Arg323=) single nucleotide variant Brugada syndrome [RCV002128563]|Cardiovascular phenotype [RCV002372992] Chr12:21766029 [GRCh38]
Chr12:21918963 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.225C>T (p.Ile75=) single nucleotide variant Brugada syndrome [RCV002108652] Chr12:21773392 [GRCh38]
Chr12:21926326 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.642C>T (p.Asp214=) single nucleotide variant Brugada syndrome [RCV002081082] Chr12:21766356 [GRCh38]
Chr12:21919290 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.352A>G (p.Thr118Ala) single nucleotide variant Brugada syndrome [RCV002147866]|Cardiovascular phenotype [RCV002454486] Chr12:21773265 [GRCh38]
Chr12:21926199 [GRCh37]
Chr12:12p12.1		 likely benign|uncertain significance
NM_004982.4(KCNJ8):c.648G>A (p.Arg216=) single nucleotide variant Brugada syndrome [RCV002179173]|Cardiovascular phenotype [RCV002363701] Chr12:21766350 [GRCh38]
Chr12:21919284 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.303C>T (p.Ile101=) single nucleotide variant Brugada syndrome [RCV002161158] Chr12:21773314 [GRCh38]
Chr12:21926248 [GRCh37]
Chr12:12p12.1		 benign
NC_000012.11:g.(?_21918657)_(22017431_?)dup duplication Brugada syndrome [RCV003113622]|Dilated cardiomyopathy 1O [RCV003113621] Chr12:21918657..22017431 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.31G>T (p.Glu11Ter) single nucleotide variant Brugada syndrome [RCV003115714] Chr12:21773586 [GRCh38]
Chr12:21926520 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.39G>T (p.Val13=) single nucleotide variant Cardiovascular phenotype [RCV003302120] Chr12:21773578 [GRCh38]
Chr12:21926512 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.103C>G (p.Arg35Gly) single nucleotide variant Cardiovascular phenotype [RCV003293386] Chr12:21773514 [GRCh38]
Chr12:21926448 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.712G>A (p.Gly238Arg) single nucleotide variant Hypertrichotic osteochondrodysplasia Cantu type [RCV002287310] Chr12:21766286 [GRCh38]
Chr12:21919220 [GRCh37]
Chr12:12p12.1		 likely pathogenic
NM_004982.4(KCNJ8):c.957A>G (p.Gln319=) single nucleotide variant Cardiovascular phenotype [RCV002385222] Chr12:21766041 [GRCh38]
Chr12:21918975 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.620G>T (p.Cys207Phe) single nucleotide variant Cardiovascular phenotype [RCV002366471] Chr12:21766378 [GRCh38]
Chr12:21919312 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.132C>T (p.Asn44=) single nucleotide variant Brugada syndrome [RCV003539442]|Cardiovascular phenotype [RCV002385889] Chr12:21773485 [GRCh38]
Chr12:21926419 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.677G>A (p.Arg226His) single nucleotide variant Cardiovascular phenotype [RCV002369359] Chr12:21766321 [GRCh38]
Chr12:21919255 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.966C>T (p.His322=) single nucleotide variant Cardiovascular phenotype [RCV002386969] Chr12:21766032 [GRCh38]
Chr12:21918966 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.98A>G (p.Lys33Arg) single nucleotide variant Cardiovascular phenotype [RCV002387445] Chr12:21773519 [GRCh38]
Chr12:21926453 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.289G>C (p.Ala97Pro) single nucleotide variant Cardiovascular phenotype [RCV002438028] Chr12:21773328 [GRCh38]
Chr12:21926262 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.66G>T (p.Leu22=) single nucleotide variant Brugada syndrome [RCV003539430]|Cardiovascular phenotype [RCV002367154] Chr12:21773551 [GRCh38]
Chr12:21926485 [GRCh37]
Chr12:12p12.1		 benign|likely benign
NM_004982.4(KCNJ8):c.984G>A (p.Val328=) single nucleotide variant Cardiovascular phenotype [RCV002387297] Chr12:21766014 [GRCh38]
Chr12:21918948 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.167T>C (p.Phe56Ser) single nucleotide variant Brugada syndrome [RCV002295973] Chr12:21773450 [GRCh38]
Chr12:21926384 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.808G>A (p.Val270Met) single nucleotide variant Brugada syndrome [RCV003099837]|Cardiovascular phenotype [RCV002419428] Chr12:21766190 [GRCh38]
Chr12:21919124 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.762C>A (p.Ile254=) single nucleotide variant Brugada syndrome [RCV003099702]|Cardiovascular phenotype [RCV002396293] Chr12:21766236 [GRCh38]
Chr12:21919170 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.768C>T (p.Ser256=) single nucleotide variant Cardiovascular phenotype [RCV002400522] Chr12:21766230 [GRCh38]
Chr12:21919164 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.1174A>G (p.Met392Val) single nucleotide variant Cardiovascular phenotype [RCV002333684] Chr12:21765824 [GRCh38]
Chr12:21918758 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.788C>T (p.Ala263Val) single nucleotide variant Cardiovascular phenotype [RCV002416580] Chr12:21766210 [GRCh38]
Chr12:21919144 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.141T>C (p.His47=) single nucleotide variant Cardiovascular phenotype [RCV002391798] Chr12:21773476 [GRCh38]
Chr12:21926410 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.594G>T (p.Val198=) single nucleotide variant Cardiovascular phenotype [RCV002355983] Chr12:21766404 [GRCh38]
Chr12:21919338 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.327_341dup (p.Gly114_Leu115insMetGluLysSerGly) duplication Cardiovascular phenotype [RCV002445706] Chr12:21773275..21773276 [GRCh38]
Chr12:21926209..21926210 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.846A>C (p.Ala282=) single nucleotide variant Cardiovascular phenotype [RCV002447575] Chr12:21766152 [GRCh38]
Chr12:21919086 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.867C>G (p.Asp289Glu) single nucleotide variant Cardiovascular phenotype [RCV002449680] Chr12:21766131 [GRCh38]
Chr12:21919065 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.47G>A (p.Arg16His) single nucleotide variant Cardiovascular phenotype [RCV002337868] Chr12:21773570 [GRCh38]
Chr12:21926504 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.153T>G (p.Arg51=) single nucleotide variant Cardiovascular phenotype [RCV002403157] Chr12:21773464 [GRCh38]
Chr12:21926398 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.63C>T (p.Asn21=) single nucleotide variant Cardiovascular phenotype [RCV002361559] Chr12:21773554 [GRCh38]
Chr12:21926488 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.1067G>A (p.Arg356Gln) single nucleotide variant Cardiovascular phenotype [RCV002408203] Chr12:21765931 [GRCh38]
Chr12:21918865 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.210C>T (p.Arg70=) single nucleotide variant Cardiovascular phenotype [RCV002424369] Chr12:21773407 [GRCh38]
Chr12:21926341 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.1263A>G (p.Thr421=) single nucleotide variant Cardiovascular phenotype [RCV002447625] Chr12:21765735 [GRCh38]
Chr12:21918669 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.852C>A (p.Asp284Glu) single nucleotide variant Cardiovascular phenotype [RCV002447791] Chr12:21766146 [GRCh38]
Chr12:21919080 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.148A>G (p.Ile50Val) single nucleotide variant Cardiovascular phenotype [RCV002389657] Chr12:21773469 [GRCh38]
Chr12:21926403 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.1002G>C (p.Val334=) single nucleotide variant Cardiovascular phenotype [RCV002394514] Chr12:21765996 [GRCh38]
Chr12:21918930 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.802T>C (p.Cys268Arg) single nucleotide variant Cardiovascular phenotype [RCV002412423] Chr12:21766196 [GRCh38]
Chr12:21919130 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.1065C>A (p.Ala355=) single nucleotide variant Cardiovascular phenotype [RCV002414903] Chr12:21765933 [GRCh38]
Chr12:21918867 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.1110A>G (p.Gln370=) single nucleotide variant Cardiovascular phenotype [RCV002429011] Chr12:21765888 [GRCh38]
Chr12:21918822 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.1242T>A (p.Thr414=) single nucleotide variant Cardiovascular phenotype [RCV002380501] Chr12:21765756 [GRCh38]
Chr12:21918690 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.848C>T (p.Thr283Ile) single nucleotide variant Cardiovascular phenotype [RCV002414384] Chr12:21766150 [GRCh38]
Chr12:21919084 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.765G>C (p.Glu255Asp) single nucleotide variant Cardiovascular phenotype [RCV002396444] Chr12:21766233 [GRCh38]
Chr12:21919167 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.387T>C (p.Ser129=) single nucleotide variant Cardiovascular phenotype [RCV002357351] Chr12:21766611 [GRCh38]
Chr12:21919545 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.1055G>A (p.Arg352Gln) single nucleotide variant Brugada syndrome [RCV003108083]|Cardiovascular phenotype [RCV002406340] Chr12:21765943 [GRCh38]
Chr12:21918877 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.735A>G (p.Gln245=) single nucleotide variant Brugada syndrome [RCV002800099] Chr12:21766263 [GRCh38]
Chr12:21919197 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.374+8T>C single nucleotide variant Brugada syndrome [RCV003054251] Chr12:21773235 [GRCh38]
Chr12:21926169 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.1158G>A (p.Met386Ile) single nucleotide variant Brugada syndrome [RCV002595612] Chr12:21765840 [GRCh38]
Chr12:21918774 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.992AAG[1] (p.Glu332del) microsatellite Brugada syndrome [RCV003083533] Chr12:21766001..21766003 [GRCh38]
Chr12:21918935..21918937 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.66G>A (p.Leu22=) single nucleotide variant Brugada syndrome [RCV003057803]|Cardiovascular phenotype [RCV003170941] Chr12:21773551 [GRCh38]
Chr12:21926485 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.1077T>A (p.Asp359Glu) single nucleotide variant Cardiovascular phenotype [RCV004125581] Chr12:21765921 [GRCh38]
Chr12:21918855 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.985A>G (p.Thr329Ala) single nucleotide variant Brugada syndrome [RCV003024984] Chr12:21766013 [GRCh38]
Chr12:21918947 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.1196G>T (p.Arg399Leu) single nucleotide variant Brugada syndrome [RCV002651463] Chr12:21765802 [GRCh38]
Chr12:21918736 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.296G>C (p.Gly99Ala) single nucleotide variant Brugada syndrome [RCV003028714] Chr12:21773321 [GRCh38]
Chr12:21926255 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.789C>T (p.Ala263=) single nucleotide variant Brugada syndrome [RCV002628555] Chr12:21766209 [GRCh38]
Chr12:21919143 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.443T>C (p.Met148Thr) single nucleotide variant Brugada syndrome [RCV003026768] Chr12:21766555 [GRCh38]
Chr12:21919489 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.1237A>G (p.Met413Val) single nucleotide variant Brugada syndrome [RCV003062078] Chr12:21765761 [GRCh38]
Chr12:21918695 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.1192A>G (p.Ile398Val) single nucleotide variant Brugada syndrome [RCV002600626] Chr12:21765806 [GRCh38]
Chr12:21918740 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.706C>T (p.Pro236Ser) single nucleotide variant Brugada syndrome [RCV003011317] Chr12:21766292 [GRCh38]
Chr12:21919226 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.941T>C (p.Ile314Thr) single nucleotide variant Brugada syndrome [RCV003051570] Chr12:21766057 [GRCh38]
Chr12:21918991 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.717G>A (p.Glu239=) single nucleotide variant Brugada syndrome [RCV002725280] Chr12:21766281 [GRCh38]
Chr12:21919215 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.470C>T (p.Thr157Met) single nucleotide variant Brugada syndrome [RCV002583833] Chr12:21766528 [GRCh38]
Chr12:21919462 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.334_348del (p.Lys112_Glu116del) deletion Brugada syndrome [RCV002587111] Chr12:21773269..21773283 [GRCh38]
Chr12:21926203..21926217 [GRCh37]
Chr12:12p12.1		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4 copy number gain Pallister-Killian syndrome [RCV003154827] Chr12:176047..34179852 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_004982.4(KCNJ8):c.952A>G (p.Ile318Val) single nucleotide variant Cardiovascular phenotype [RCV003182410] Chr12:21766046 [GRCh38]
Chr12:21918980 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.936C>T (p.Ser312=) single nucleotide variant Cardiovascular phenotype [RCV003182414] Chr12:21766062 [GRCh38]
Chr12:21918996 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.956A>T (p.Gln319Leu) single nucleotide variant Brugada syndrome [RCV003654461] Chr12:21766042 [GRCh38]
Chr12:21918976 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.1122G>A (p.Leu374=) single nucleotide variant Brugada syndrome [RCV003654852] Chr12:21765876 [GRCh38]
Chr12:21918810 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.757C>A (p.Pro253Thr) single nucleotide variant Brugada syndrome [RCV003654897] Chr12:21766241 [GRCh38]
Chr12:21919175 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.192G>C (p.Leu64Phe) single nucleotide variant Brugada syndrome [RCV003655706] Chr12:21773425 [GRCh38]
Chr12:21926359 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.1236T>G (p.Phe412Leu) single nucleotide variant Brugada syndrome [RCV003655595] Chr12:21765762 [GRCh38]
Chr12:21918696 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.1156A>C (p.Met386Leu) single nucleotide variant Brugada syndrome [RCV003655650] Chr12:21765842 [GRCh38]
Chr12:21918776 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.753T>G (p.Asp251Glu) single nucleotide variant Brugada syndrome [RCV003654632] Chr12:21766245 [GRCh38]
Chr12:21919179 [GRCh37]
Chr12:12p12.1		 uncertain significance
GRCh37/hg19 12p12.1(chr12:21764770-22085125)x3 copy number gain not provided [RCV003484865] Chr12:21764770..22085125 [GRCh37]
Chr12:12p12.1		 uncertain significance
Single allele duplication not provided [RCV003448692] Chr12:188053..34856694 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_004982.4(KCNJ8):c.584G>A (p.Arg195His) single nucleotide variant Brugada syndrome [RCV003540165] Chr12:21766414 [GRCh38]
Chr12:21919348 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.1104C>T (p.Thr368=) single nucleotide variant Brugada syndrome [RCV003540060] Chr12:21765894 [GRCh38]
Chr12:21918828 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.55G>A (p.Ala19Thr) single nucleotide variant Brugada syndrome [RCV003540082] Chr12:21773562 [GRCh38]
Chr12:21926496 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.1205A>G (p.Asn402Ser) single nucleotide variant Brugada syndrome [RCV003539747] Chr12:21765793 [GRCh38]
Chr12:21918727 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.635T>C (p.Val212Ala) single nucleotide variant Brugada syndrome [RCV003540067] Chr12:21766363 [GRCh38]
Chr12:21919297 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.2dup (p.Met1fs) duplication Brugada syndrome [RCV003881587] Chr12:21773614..21773615 [GRCh38]
Chr12:21926548..21926549 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.483C>T (p.Leu161=) single nucleotide variant Brugada syndrome [RCV003834816] Chr12:21766515 [GRCh38]
Chr12:21919449 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.1143G>A (p.Arg381=) single nucleotide variant Brugada syndrome [RCV003818221] Chr12:21765855 [GRCh38]
Chr12:21918789 [GRCh37]
Chr12:12p12.1		 likely benign
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3 copy number gain not specified [RCV003986979] Chr12:173786..34835641 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_004982.4(KCNJ8):c.442A>G (p.Met148Val) single nucleotide variant Cardiovascular phenotype [RCV004519278] Chr12:21766556 [GRCh38]
Chr12:21919490 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.762C>T (p.Ile254=) single nucleotide variant Cardiovascular phenotype [RCV004519279] Chr12:21766236 [GRCh38]
Chr12:21919170 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.396C>G (p.Leu132=) single nucleotide variant Cardiovascular phenotype [RCV004519277] Chr12:21766602 [GRCh38]
Chr12:21919536 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.25C>T (p.Pro9Ser) single nucleotide variant Cardiovascular phenotype [RCV004519276] Chr12:21773592 [GRCh38]
Chr12:21926526 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.162A>G (p.Gly54=) single nucleotide variant Cardiovascular phenotype [RCV004519275] Chr12:21773455 [GRCh38]
Chr12:21926389 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.265A>G (p.Ile89Val) single nucleotide variant Cardiovascular phenotype [RCV004406236] Chr12:21773352 [GRCh38]
Chr12:21926286 [GRCh37]
Chr12:12p12.1		 uncertain significance
NC_000012.11:g.(?_21918657)_(22089608_?)del deletion Brugada syndrome [RCV004578410] Chr12:21918657..22089608 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.504C>T (p.Ile168=) single nucleotide variant Cardiovascular phenotype [RCV004626576] Chr12:21766494 [GRCh38]
Chr12:21919428 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.1208C>T (p.Ser403Phe) single nucleotide variant Cardiovascular phenotype [RCV004628170] Chr12:21765790 [GRCh38]
Chr12:21918724 [GRCh37]
Chr12:12p12.1		 uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p12.2-12.1(chr12:20837998-22734873)x3 copy number gain See cases [RCV000448036] Chr12:20837998..22734873 [GRCh37]
Chr12:12p12.2-12.1		 likely pathogenic
NM_004982.4(KCNJ8):c.600C>T (p.Ala200=) single nucleotide variant Brugada syndrome [RCV002064709]|Cardiovascular phenotype [RCV002354674] Chr12:21766398 [GRCh38]
Chr12:21919332 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.43G>T (p.Ala15Ser) single nucleotide variant Cardiovascular phenotype [RCV003339069] Chr12:21773574 [GRCh38]
Chr12:21926508 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.27G>A (p.Pro9=) single nucleotide variant Cardiovascular phenotype [RCV003339070] Chr12:21773590 [GRCh38]
Chr12:21926524 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.27G>C (p.Pro9=) single nucleotide variant Cardiovascular phenotype [RCV003339071] Chr12:21773590 [GRCh38]
Chr12:21926524 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.1214T>C (p.Leu405Pro) single nucleotide variant Cardiovascular phenotype [RCV003341702] Chr12:21765784 [GRCh38]
Chr12:21918718 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.27G>T (p.Pro9=) single nucleotide variant Cardiovascular phenotype [RCV003341701] Chr12:21773590 [GRCh38]
Chr12:21926524 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.89G>A (p.Arg30His) single nucleotide variant Cardiovascular phenotype [RCV003368279] Chr12:21773528 [GRCh38]
Chr12:21926462 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.49A>G (p.Ile17Val) single nucleotide variant Cardiovascular phenotype [RCV003368280] Chr12:21773568 [GRCh38]
Chr12:21926502 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.336A>G (p.Lys112=) single nucleotide variant Cardiovascular phenotype [RCV003358271] Chr12:21773281 [GRCh38]
Chr12:21926215 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.1212C>T (p.Ser404=) single nucleotide variant Cardiovascular phenotype [RCV003358272] Chr12:21765786 [GRCh38]
Chr12:21918720 [GRCh37]
Chr12:12p12.1		 likely benign
NM_004982.4(KCNJ8):c.329T>C (p.Met110Thr) single nucleotide variant Cardiovascular phenotype [RCV004628168] Chr12:21773288 [GRCh38]
Chr12:21926222 [GRCh37]
Chr12:12p12.1		 uncertain significance
NM_004982.4(KCNJ8):c.102C>T (p.Ala34=) single nucleotide variant Cardiovascular phenotype [RCV004628169] Chr12:21773515 [GRCh38]
Chr12:21926449 [GRCh37]
Chr12:12p12.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:413
Count of miRNA genes:367
Interacting mature miRNAs:383
Transcripts:ENST00000240662, ENST00000537950
Prediction methods:Miranda, Rnahybrid
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
RH92325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371221,917,960 - 21,918,115UniSTSGRCh37
Build 361221,809,227 - 21,809,382RGDNCBI36
Celera1227,072,972 - 27,073,127RGD
Cytogenetic Map12p11.23UniSTS
HuRef1221,691,513 - 21,691,668UniSTS
GeneMap99-GB4 RH Map1279.23UniSTS
RH80763  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371221,918,460 - 21,918,619UniSTSGRCh37
Build 361221,809,727 - 21,809,886RGDNCBI36
Celera1227,073,472 - 27,073,631RGD
Cytogenetic Map12p11.23UniSTS
HuRef1221,692,013 - 21,692,172UniSTS
KCNJ8_V182  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371221,918,444 - 21,919,244UniSTSGRCh37
Build 361221,809,711 - 21,810,511RGDNCBI36
Celera1227,073,456 - 27,074,256RGD
HuRef1221,691,997 - 21,692,797UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2365 2788 2233 4911 1714 2259 3 618 1248 456 2238 6546 5774 35 3703 835 1688 1534 171 1

Sequence


Ensembl Acc Id: ENST00000240662   ⟹   ENSP00000240662
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1221,764,955 - 21,774,706 (-)Ensembl
Ensembl Acc Id: ENST00000537950   ⟹   ENSP00000440012
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1221,773,275 - 21,775,581 (-)Ensembl
Ensembl Acc Id: ENST00000657855
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1221,764,990 - 21,773,762 (-)Ensembl
Ensembl Acc Id: ENST00000665145   ⟹   ENSP00000499300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1221,764,984 - 21,775,600 (-)Ensembl
Ensembl Acc Id: ENST00000667884   ⟹   ENSP00000499462
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1221,764,988 - 21,775,056 (-)Ensembl
RefSeq Acc Id: NM_004982   ⟹   NP_004973
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381221,764,955 - 21,774,706 (-)NCBI
GRCh371221,917,889 - 21,928,436 (-)NCBI
Build 361221,809,156 - 21,819,014 (-)NCBI Archive
HuRef1221,691,442 - 21,701,306 (-)NCBI
CHM1_11221,883,171 - 21,893,034 (-)NCBI
T2T-CHM13v2.01221,643,637 - 21,653,388 (-)NCBI
Sequence:
RefSeq Acc Id: NP_004973   ⟸   NM_004982
- UniProtKB: O00657 (UniProtKB/Swiss-Prot),   Q15842 (UniProtKB/Swiss-Prot),   A8K706 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000240662   ⟸   ENST00000240662
Ensembl Acc Id: ENSP00000499300   ⟸   ENST00000665145
Ensembl Acc Id: ENSP00000499462   ⟸   ENST00000667884
Ensembl Acc Id: ENSP00000440012   ⟸   ENST00000537950
Protein Domains
Inward rectifier potassium channel C-terminal   Potassium channel inwardly rectifying transmembrane

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q15842-F1-model_v2 AlphaFold Q15842 1-424 view protein structure

Promoters
RGD ID:7223415
Promoter ID:EPDNEW_H17453
Type:initiation region
Name:KCNJ8_3
Description:potassium voltage-gated channel subfamily J member 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17454  EPDNEW_H17455  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381221,774,698 - 21,774,758EPDNEW
RGD ID:7223417
Promoter ID:EPDNEW_H17454
Type:initiation region
Name:KCNJ8_2
Description:potassium voltage-gated channel subfamily J member 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17453  EPDNEW_H17455  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381221,774,825 - 21,774,885EPDNEW
RGD ID:7223419
Promoter ID:EPDNEW_H17455
Type:multiple initiation site
Name:KCNJ8_1
Description:potassium voltage-gated channel subfamily J member 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17453  EPDNEW_H17454  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381221,775,600 - 21,775,660EPDNEW
RGD ID:6790149
Promoter ID:HG_KWN:15191
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:NM_004982
Position:
Human AssemblyChrPosition (strand)Source
Build 361221,818,579 - 21,819,079 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6269 AgrOrtholog
COSMIC KCNJ8 COSMIC
Ensembl Genes ENSG00000121361 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000240662 ENTREZGENE
  ENST00000240662.3 UniProtKB/Swiss-Prot
  ENST00000537950.1 UniProtKB/TrEMBL
  ENST00000665145.1 UniProtKB/Swiss-Prot
  ENST00000667884.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.287.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.1400 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000121361 GTEx
HGNC ID HGNC:6269 ENTREZGENE
Human Proteome Map KCNJ8 Human Proteome Map
InterPro Ig_E-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IRK_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_inward-rec_Kir UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_inward-rec_Kir6.1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_inward-rec_Kir_cyto UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kir_TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3764 UniProtKB/Swiss-Prot
NCBI Gene 3764 ENTREZGENE
OMIM 600935 OMIM
PANTHER PTHR11767 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11767:SF11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam IRK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IRK_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB KCNJ8 RGD, PharmGKB
PIRSF GIRK_kir UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS KIR61CHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KIRCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF81296 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Voltage-gated potassium channels UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K706 ENTREZGENE, UniProtKB/TrEMBL
  F5GY12_HUMAN UniProtKB/TrEMBL
  KCNJ8_HUMAN UniProtKB/Swiss-Prot
  O00657 ENTREZGENE
  Q15842 ENTREZGENE
UniProt Secondary O00657 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-07-23 KCNJ8  potassium inwardly rectifying channel subfamily J member 8  KCNJ8  potassium voltage-gated channel subfamily J member 8  Symbol and/or name change 5135510 APPROVED
2016-02-10 KCNJ8  potassium voltage-gated channel subfamily J member 8    potassium channel, inwardly rectifying subfamily J, member 8  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNJ8  potassium channel, inwardly rectifying subfamily J, member 8    potassium inwardly-rectifying channel, subfamily J, member 8  Symbol and/or name change 5135510 APPROVED