KCNJ5 (potassium inwardly rectifying channel subfamily J member 5) - Rat Genome Database

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Gene: KCNJ5 (potassium inwardly rectifying channel subfamily J member 5) Homo sapiens
Analyze
Symbol: KCNJ5
Name: potassium inwardly rectifying channel subfamily J member 5
RGD ID: 1349904
HGNC Page HGNC:6266
Description: Enables voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization. Contributes to inward rectifier potassium channel activity. Involved in membrane repolarization during atrial cardiac muscle cell action potential; potassium ion import across plasma membrane; and regulation of heart rate by cardiac conduction. Part of voltage-gated potassium channel complex. Implicated in atrial fibrillation; long QT syndrome 13; and primary hyperaldosteronism.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cardiac ATP-sensitive potassium channel; cardiac inward rectifier; CIR; G protein-activated inward rectifier potassium channel 4; G protein-activated inward rectifier potassium channel 4 (GIRK4) (Potassium channel, inwardly rectifying, subfamily J, member 5) (Inward rectifier K+ channel Kir3.4) (Heart KATP channel) (KATP-1) (Cardiac inward rectifier) (CIR)...; GIRK-4; GIRK4; heart KATP channel; inward rectifier K(+) channel Kir3.4; inward rectifier K+ channel KIR3.4; IRK-4; KATP-1; KATP1; KIR3.4; LQT13; potassium channel, inwardly rectifying subfamily J member 5; potassium channel, inwardly rectifying subfamily J, member 5; potassium inwardly-rectifying channel, subfamily J, member 5; potassium voltage-gated channel subfamily J member 5
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
GRCh3811128,891,356 - 128,921,163 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11128,891,356 - 128,921,163 (+)EnsemblGRCh38hg38GRCh38
GRCh3711128,761,251 - 128,791,058 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611128,266,523 - 128,293,174 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411128,266,522 - 128,293,174NCBI
Celera11125,929,625 - 125,956,261 (+)NCBICelera
Cytogenetic Map11q24.3NCBI
HuRef11124,711,137 - 124,737,786 (+)NCBIHuRef
CHM1_111128,647,771 - 128,674,425 (+)NCBICHM1_1
T2T-CHM13v2.011128,926,287 - 128,956,088 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Molecular Pathway Annotations     Click to see Annotation Detail View
acebutolol pharmacodynamics pathway   (EXP)
adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway  (EXP)
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
2-3 toe syndactyly  (IAGP)
Abnormal autonomic nervous system physiology  (IAGP)
Abnormal cardiac exercise stress test  (IAGP)
Abnormal circulating renin  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal T-wave  (IAGP)
Abnormality of dental color  (IAGP)
Abnormality of prenatal development or birth  (IAGP)
Abnormality of the dentition  (IAGP)
Adrenal hyperplasia  (IAGP)
Atrial fibrillation  (IAGP)
Atrioventricular block  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bidirectional ventricular ectopy  (IAGP)
Broad forehead  (IAGP)
Bulbous nose  (IAGP)
Cardiac arrest  (IAGP)
Chest pain  (IAGP)
Clinodactyly of the 5th toe  (IAGP)
Congestive heart failure  (IAGP)
Decreased circulating renin level  (IAGP)
Dental crowding  (IAGP)
Dexamethasone-suppressible primary hyperaldosteronism  (IAGP)
Dilated cardiomyopathy  (IAGP)
Dyspnea  (IAGP)
Early young adult onset  (IAGP)
Episodic flaccid weakness  (IAGP)
Epistaxis  (IAGP)
Exercise intolerance  (IAGP)
Facial asymmetry  (IAGP)
Fatigue  (IAGP)
Glucocortocoid-insensitive primary hyperaldosteronism  (IAGP)
Growth delay  (IAGP)
Headache  (IAGP)
Hearing impairment  (IAGP)
High palate  (IAGP)
Hyperaldosteronism  (IAGP)
Hypercalciuria  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypokalemia  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Intracranial hemorrhage  (IAGP)
Joint hypermobility  (IAGP)
Left ventricular hypertrophy  (IAGP)
Low-set ears  (IAGP)
Metabolic acidosis  (IAGP)
Metabolic alkalosis  (IAGP)
Micrognathia  (IAGP)
Muscle weakness  (IAGP)
Myocardial infarction  (IAGP)
Nausea  (IAGP)
Neonatal onset  (IAGP)
Neurodevelopmental delay  (IAGP)
Oligodontia  (IAGP)
Palpitations  (IAGP)
Periodic hyperkalemic paralysis  (IAGP)
Periodic hypokalemic paresis  (IAGP)
Periodic paralysis  (IAGP)
Permanent atrial fibrillation  (IAGP)
Persistence of primary teeth  (IAGP)
Polydipsia  (IAGP)
Polymorphic and polytopic ventricular extrasystoles  (IAGP)
Polymorphic ventricular tachycardia  (IAGP)
Polyuria  (IAGP)
Premature ventricular contraction  (IAGP)
Prolonged QT interval  (IAGP)
Prolonged QTc interval  (IAGP)
Prominent U wave  (IAGP)
Pulmonary embolism  (IAGP)
Reduced left ventricular ejection fraction  (IAGP)
Renal hypoplasia  (IAGP)
Renal tubular dysfunction  (IAGP)
Scaphocephaly  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short foot  (IAGP)
Short palpebral fissure  (IAGP)
Short stature  (IAGP)
Sinus bradycardia  (IAGP)
Small hand  (IAGP)
Specific learning disability  (IAGP)
Sudden cardiac death  (IAGP)
Syncope  (IAGP)
Thin upper lip vermilion  (IAGP)
Thromboembolic stroke  (IAGP)
Thromboembolism  (IAGP)
Tinnitus  (IAGP)
Torsade de pointes  (IAGP)
Triangular face  (IAGP)
Ventricular arrhythmia  (IAGP)
Vertigo  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Alterations in potassium channel gene expression in atria of patients with persistent and paroxysmal atrial fibrillation: differential regulation of protein and mRNA levels for K+ channels. Brundel BJ, etal., J Am Coll Cardiol. 2001 Mar 1;37(3):926-32.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7580148   PMID:7590741   PMID:8558261   PMID:8834003   PMID:8868049   PMID:9108307   PMID:9169438   PMID:9245502   PMID:9642257   PMID:9765280   PMID:9891030   PMID:10659995  
PMID:11741896   PMID:11879649   PMID:12297500   PMID:12477932   PMID:15142872   PMID:15489334   PMID:15694835   PMID:16109170   PMID:16382105   PMID:17185339   PMID:17207965   PMID:17967416  
PMID:18239147   PMID:18289755   PMID:18391953   PMID:18976975   PMID:19135528   PMID:19208499   PMID:19805912   PMID:20110696   PMID:20301308   PMID:20301441   PMID:20560207   PMID:21311022  
PMID:21555883   PMID:21586291   PMID:21637918   PMID:21659651   PMID:21873635   PMID:22203740   PMID:22252394   PMID:22275527   PMID:22278422   PMID:22308486   PMID:22315453   PMID:22323562  
PMID:22442279   PMID:22628607   PMID:22628608   PMID:22645387   PMID:22701748   PMID:22743686   PMID:22798349   PMID:22848660   PMID:22863749   PMID:22954132   PMID:23012392   PMID:23225057  
PMID:23229280   PMID:23318698   PMID:23376008   PMID:23382865   PMID:23383108   PMID:23778974   PMID:23829355   PMID:23872692   PMID:24037882   PMID:24082052   PMID:24148898   PMID:24179102  
PMID:24274318   PMID:24420545   PMID:24506072   PMID:24510572   PMID:24574546   PMID:24711039   PMID:24759126   PMID:24819081   PMID:24840790   PMID:24866132   PMID:24899236   PMID:25057880  
PMID:25253161   PMID:25347571   PMID:25417227   PMID:25617716   PMID:25636093   PMID:25906099   PMID:25998841   PMID:26059367   PMID:26066531   PMID:26252618   PMID:26340408   PMID:26351028  
PMID:26445452   PMID:26566104   PMID:26739091   PMID:26807823   PMID:27013018   PMID:27074664   PMID:27099398   PMID:27222927   PMID:27282482   PMID:27293068   PMID:27514282   PMID:27681703  
PMID:27777363   PMID:27864865   PMID:28102195   PMID:28298427   PMID:28415786   PMID:28447626   PMID:28514442   PMID:28584012   PMID:28584016   PMID:28604387   PMID:28747387   PMID:28974779  
PMID:28993452   PMID:29016532   PMID:29409357   PMID:30354720   PMID:30354756   PMID:30645171   PMID:30764634   PMID:31006333   PMID:31216002   PMID:31446799   PMID:31751625   PMID:31909710  
PMID:32296183   PMID:33199157   PMID:33249859   PMID:33678553   PMID:33961781   PMID:34038243   PMID:34313632   PMID:34846128   PMID:34957562   PMID:35311227   PMID:35779252   PMID:36012306  
PMID:36950676   PMID:37463983   PMID:37894977  


Genomics

Comparative Map Data
KCNJ5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811128,891,356 - 128,921,163 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11128,891,356 - 128,921,163 (+)EnsemblGRCh38hg38GRCh38
GRCh3711128,761,251 - 128,791,058 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611128,266,523 - 128,293,174 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411128,266,522 - 128,293,174NCBI
Celera11125,929,625 - 125,956,261 (+)NCBICelera
Cytogenetic Map11q24.3NCBI
HuRef11124,711,137 - 124,737,786 (+)NCBIHuRef
CHM1_111128,647,771 - 128,674,425 (+)NCBICHM1_1
T2T-CHM13v2.011128,926,287 - 128,956,088 (+)NCBIT2T-CHM13v2.0
Kcnj5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39932,226,002 - 32,255,640 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl932,226,003 - 32,255,646 (-)EnsemblGRCm39 Ensembl
GRCm38932,314,706 - 32,344,380 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl932,314,707 - 32,344,350 (-)EnsemblGRCm38mm10GRCm38
MGSCv37932,122,368 - 32,151,822 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36932,064,348 - 32,093,802 (-)NCBIMGSCv36mm8
Celera929,575,909 - 29,607,555 (-)NCBICelera
Cytogenetic Map9A4NCBI
cM Map917.65NCBI
Kcnj5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8838,981,598 - 39,011,197 (-)NCBIGRCr8
mRatBN7.2830,724,923 - 30,753,083 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl830,724,925 - 30,753,518 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx834,797,358 - 34,825,231 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0833,091,766 - 33,119,639 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0830,954,588 - 30,982,520 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0833,435,493 - 33,463,410 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl833,433,905 - 33,463,467 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0833,488,649 - 33,510,083 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4832,082,866 - 32,104,412 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1831,320,012 - 32,113,178 (-)NCBI
Celera832,183,024 - 32,204,559 (-)NCBICelera
Cytogenetic Map8q21NCBI
Kcnj5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541229,850,097 - 29,874,213 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541229,850,097 - 29,874,213 (+)NCBIChiLan1.0ChiLan1.0
KCNJ5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v29129,573,968 - 129,607,177 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan111130,681,522 - 130,714,740 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v011123,705,361 - 123,735,370 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111127,602,663 - 127,637,326 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11127,606,208 - 127,634,213 (+)Ensemblpanpan1.1panPan2
KCNJ5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.155,736,544 - 5,760,705 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl55,740,176 - 5,760,866 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha55,799,513 - 5,820,774 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.055,699,117 - 5,704,382 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.155,758,951 - 5,780,195 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.055,736,878 - 5,758,109 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.055,770,917 - 5,792,183 (-)NCBIUU_Cfam_GSD_1.0
Kcnj5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947111,076,299 - 111,103,302 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365723,344,937 - 3,373,747 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365723,344,942 - 3,373,690 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNJ5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl955,836,701 - 55,864,941 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1955,836,777 - 55,861,288 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2961,927,955 - 61,952,450 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KCNJ5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11120,025,238 - 120,098,006 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1120,025,300 - 120,057,023 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660436,035,256 - 6,065,531 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kcnj5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248123,213,774 - 3,244,012 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248123,213,619 - 3,243,514 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KCNJ5
329 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000890.5(KCNJ5):c.367G>A (p.Asp123Asn) single nucleotide variant Long QT syndrome 13 [RCV002476101]|Long QT syndrome [RCV000544067] Chr11:128911640 [GRCh38]
Chr11:128781535 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.472A>G (p.Thr158Ala) single nucleotide variant Aldosterone-producing adrenal adenoma, somatic [RCV000122747]|Andersen Tawil syndrome [RCV000194572]|Familial hyperaldosteronism type III [RCV000023035] Chr11:128911745 [GRCh38]
Chr11:128781640 [GRCh37]
Chr11:11q24.3
pathogenic|other|not provided
NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg) single nucleotide variant Andersen Tawil syndrome [RCV000193019]|Cardiovascular phenotype [RCV003162221]|Familial hyperaldosteronism type III [RCV000312115]|Long QT syndrome 13 [RCV000009405]|Long QT syndrome [RCV000865749] Chr11:128916630 [GRCh38]
Chr11:128786525 [GRCh37]
Chr11:11q24.3
pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000890.5(KCNJ5):c.122G>A (p.Arg41His) single nucleotide variant Cardiovascular phenotype [RCV002377011]|Long QT syndrome [RCV000543826]|not provided [RCV001556825] Chr11:128911395 [GRCh38]
Chr11:128781290 [GRCh37]
Chr11:11q24.3
likely benign|uncertain significance
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000050331] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q24.2-25(chr11:127604660-134998454)x1 copy number loss See cases [RCV000050843] Chr11:127604660..134998454 [GRCh38]
Chr11:127474555..134868348 [GRCh37]
Chr11:126979765..134373558 [NCBI36]
Chr11:11q24.2-25
pathogenic
GRCh38/hg38 11q24.2-25(chr11:124155723-134998513)x1 copy number loss See cases [RCV000050865] Chr11:124155723..134998513 [GRCh38]
Chr11:124026430..134868407 [GRCh37]
Chr11:123531640..134373617 [NCBI36]
Chr11:11q24.2-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1 copy number loss See cases [RCV000050905] Chr11:119433909..134998513 [GRCh38]
Chr11:119304619..134868407 [GRCh37]
Chr11:118809829..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q24.2-24.3(chr11:125891315-129072391)x1 copy number loss See cases [RCV000050926] Chr11:125891315..129072391 [GRCh38]
Chr11:125761210..128942286 [GRCh37]
Chr11:125266420..128447496 [NCBI36]
Chr11:11q24.2-24.3
pathogenic
GRCh38/hg38 11q24.2-25(chr11:126445805-134998513)x3 copy number gain See cases [RCV000051162] Chr11:126445805..134998513 [GRCh38]
Chr11:126315700..134868407 [GRCh37]
Chr11:125820910..134373617 [NCBI36]
Chr11:11q24.2-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3 copy number gain See cases [RCV000051213] Chr11:118789765..134998513 [GRCh38]
Chr11:118660474..134868407 [GRCh37]
Chr11:118165684..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:119215032-134998654)x1 copy number loss See cases [RCV000052715] Chr11:119215032..134998654 [GRCh38]
Chr11:119085742..134868548 [GRCh37]
Chr11:118590952..134373758 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1 copy number loss See cases [RCV000052716] Chr11:120507265..134576266 [GRCh38]
Chr11:120377974..134446160 [GRCh37]
Chr11:119883184..133951370 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q24.2-25(chr11:126433740-135040246)x1 copy number loss See cases [RCV000052741] Chr11:126433740..135040246 [GRCh38]
Chr11:126303635..134910140 [GRCh37]
Chr11:125808845..134415350 [NCBI36]
Chr11:11q24.2-25
pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3 copy number gain See cases [RCV000053643] Chr11:120236432..135040246 [GRCh38]
Chr11:120107141..134910140 [GRCh37]
Chr11:119612351..134415350 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q24.1-25(chr11:123753493-134998513)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053645]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053645]|See cases [RCV000053645] Chr11:123753493..134998513 [GRCh38]
Chr11:123624201..134868407 [GRCh37]
Chr11:123129411..134373617 [NCBI36]
Chr11:11q24.1-25
pathogenic
NM_000890.3(KCNJ5):c.585G>A (p.Lys195=) single nucleotide variant Malignant melanoma [RCV000069245] Chr11:128911858 [GRCh38]
Chr11:128781753 [GRCh37]
Chr11:128286963 [NCBI36]
Chr11:11q24.3
not provided
NM_000890.3(KCNJ5):c.920G>A (p.Gly307Glu) single nucleotide variant Malignant melanoma [RCV000069246] Chr11:128912193 [GRCh38]
Chr11:128782088 [GRCh37]
Chr11:128287298 [NCBI36]
Chr11:11q24.3
not provided
NM_000890.3(KCNJ5):c.519C>T (p.Ile173=) single nucleotide variant Malignant melanoma [RCV000062171] Chr11:128911792 [GRCh38]
Chr11:128781687 [GRCh37]
Chr11:128286897 [NCBI36]
Chr11:11q24.3
not provided
GRCh37/hg19 11q24.2-25(chr11:125937383-134934063)x1 copy number loss See cases [RCV000663397] Chr11:125937383..134934063 [GRCh37]
Chr11:11q24.2-25
pathogenic
KCNJ5:c.-10-6703C>A single nucleotide variant Malignant melanoma [RCV000069243] Chr11:128904561 [GRCh38]
Chr11:128774456 [GRCh37]
Chr11:128279666 [NCBI36]
Chr11:11q24.3
not provided
KCNJ5:c.-10-6702A>C single nucleotide variant Malignant melanoma [RCV000069244] Chr11:128904562 [GRCh38]
Chr11:128774457 [GRCh37]
Chr11:128279667 [NCBI36]
Chr11:11q24.3
not provided
NM_000890.5(KCNJ5):c.451G>A (p.Gly151Arg) single nucleotide variant Aldosterone-producing adrenal adenoma, somatic [RCV000122749]|Cardiovascular phenotype [RCV002326795]|Familial hyperaldosteronism type III [RCV000122750]|not provided [RCV000122472] Chr11:128911724 [GRCh38]
Chr11:128781619 [GRCh37]
Chr11:11q24.3
pathogenic|likely pathogenic|other
NM_000890.5(KCNJ5):c.451G>C (p.Gly151Arg) single nucleotide variant not provided [RCV000122473] Chr11:128911724 [GRCh38]
Chr11:128781619 [GRCh37]
Chr11:11q24.3
likely pathogenic
NM_000890.5(KCNJ5):c.503T>G (p.Leu168Arg) single nucleotide variant not provided [RCV000122474] Chr11:128911776 [GRCh38]
Chr11:128781671 [GRCh37]
Chr11:11q24.3
likely pathogenic
NM_000890.5(KCNJ5):c.739G>A (p.Gly247Arg) single nucleotide variant Cardiovascular phenotype [RCV002381433]|Long QT syndrome [RCV001084390]|not provided [RCV000122748] Chr11:128912012 [GRCh38]
Chr11:128781907 [GRCh37]
Chr11:11q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000890.5(KCNJ5):c.452G>A (p.Gly151Glu) single nucleotide variant Familial hyperaldosteronism type III [RCV000122751]|Long QT syndrome [RCV001210015] Chr11:128911725 [GRCh38]
Chr11:128781620 [GRCh37]
Chr11:11q24.3
pathogenic
NM_000890.5(KCNJ5):c.470T>G (p.Ile157Ser) single nucleotide variant Familial hyperaldosteronism type III [RCV000122752] Chr11:128911743 [GRCh38]
Chr11:128781638 [GRCh37]
Chr11:11q24.3
pathogenic
NM_000890.5(KCNJ5):c.736G>A (p.Glu246Lys) single nucleotide variant Familial hyperaldosteronism type III [RCV000122753] Chr11:128912009 [GRCh38]
Chr11:128781904 [GRCh37]
Chr11:11q24.3
pathogenic
NM_000890.5(KCNJ5):c.10G>A (p.Asp4Asn) single nucleotide variant Cardiovascular phenotype [RCV002426812]|Long QT syndrome [RCV001088885]|not provided [RCV000170998] Chr11:128911283 [GRCh38]
Chr11:128781178 [GRCh37]
Chr11:11q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000890.5(KCNJ5):c.133G>A (p.Glu45Lys) single nucleotide variant Cardiovascular phenotype [RCV002381545]|Long QT syndrome [RCV000560761]|not provided [RCV001704242] Chr11:128911406 [GRCh38]
Chr11:128781301 [GRCh37]
Chr11:11q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000890.5(KCNJ5):c.344G>A (p.Arg115Gln) single nucleotide variant Cardiovascular phenotype [RCV002453584]|Long QT syndrome [RCV002516552]|not provided [RCV000171001] Chr11:128911617 [GRCh38]
Chr11:128781512 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.634G>A (p.Asp212Asn) single nucleotide variant Long QT syndrome [RCV002814400] Chr11:128911907 [GRCh38]
Chr11:128781802 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.703C>T (p.Arg235Trp) single nucleotide variant Long QT syndrome [RCV001227136]|not provided [RCV000171003] Chr11:128911976 [GRCh38]
Chr11:128781871 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.171T>C (p.Ser57=) single nucleotide variant Cardiovascular phenotype [RCV000617290]|Congenital long QT syndrome [RCV000307277]|Familial hyperaldosteronism type III [RCV000366690]|Long QT syndrome 13 [RCV001730569]|Long QT syndrome [RCV000860161]|not specified [RCV000126421] Chr11:128911444 [GRCh38]
Chr11:128781339 [GRCh37]
Chr11:11q24.3
benign
NM_000890.5(KCNJ5):c.810T>G (p.Leu270=) single nucleotide variant Cardiovascular phenotype [RCV000617721]|Congenital long QT syndrome [RCV000389577]|Familial hyperaldosteronism type III [RCV000330341]|Long QT syndrome 13 [RCV001730570]|Long QT syndrome 13 [RCV002477334]|Long QT syndrome [RCV000860162]|not specified [RCV000126422] Chr11:128912083 [GRCh38]
Chr11:128781978 [GRCh37]
Chr11:11q24.3
benign
NM_000890.5(KCNJ5):c.834T>C (p.His278=) single nucleotide variant Cardiovascular phenotype [RCV000621046]|Congenital long QT syndrome [RCV000345335]|Familial hyperaldosteronism type III [RCV000295128]|Long QT syndrome 13 [RCV001730571]|Long QT syndrome [RCV000860163]|not specified [RCV000126423] Chr11:128912107 [GRCh38]
Chr11:128782002 [GRCh37]
Chr11:11q24.3
benign
NM_000890.5(KCNJ5):c.844C>G (p.Gln282Glu) single nucleotide variant Cardiovascular phenotype [RCV000622178]|Congenital long QT syndrome [RCV000291702]|Familial hyperaldosteronism type III [RCV000381382]|Long QT syndrome 13 [RCV001730572]|Long QT syndrome [RCV000860164]|not specified [RCV000126424] Chr11:128912117 [GRCh38]
Chr11:128782012 [GRCh37]
Chr11:11q24.3
benign
NM_000890.5(KCNJ5):c.937+7C>T single nucleotide variant Congenital long QT syndrome [RCV000401026]|Familial hyperaldosteronism type III [RCV000340520]|Long QT syndrome [RCV000473950]|not specified [RCV000126425] Chr11:128912217 [GRCh38]
Chr11:128782112 [GRCh37]
Chr11:11q24.3
benign
NM_000890.5(KCNJ5):c.938-10G>A single nucleotide variant Congenital long QT syndrome [RCV000341556]|Familial hyperaldosteronism type III [RCV000305432]|Long QT syndrome 13 [RCV001730573]|Long QT syndrome [RCV000860165]|not specified [RCV000126426] Chr11:128916399 [GRCh38]
Chr11:128786294 [GRCh37]
Chr11:11q24.3
benign
NM_000890.5(KCNJ5):c.314G>C (p.Gly105Ala) single nucleotide variant Long QT syndrome [RCV001036235]|not provided [RCV000171000] Chr11:128911587 [GRCh38]
Chr11:128781482 [GRCh37]
Chr11:11q24.3
uncertain significance
GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1 copy number loss See cases [RCV000134731] Chr11:124205225..134998526 [GRCh38]
Chr11:124075932..134868420 [GRCh37]
Chr11:123581142..134373630 [NCBI36]
Chr11:11q24.2-25
pathogenic
GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1 copy number loss See cases [RCV000134708] Chr11:123799938..134998526 [GRCh38]
Chr11:123670646..134868420 [GRCh37]
Chr11:123175856..134373630 [NCBI36]
Chr11:11q24.1-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3 copy number gain See cases [RCV000134064] Chr11:116851372..134998526 [GRCh38]
Chr11:116722088..134868420 [GRCh37]
Chr11:116227298..134373630 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q24.2-25(chr11:126046358-134998513)x1 copy number loss See cases [RCV000136595] Chr11:126046358..134998513 [GRCh38]
Chr11:125916253..134868407 [GRCh37]
Chr11:125421463..134373617 [NCBI36]
Chr11:11q24.2-25
pathogenic
GRCh38/hg38 11q24.2-25(chr11:125241472-134998513)x1 copy number loss See cases [RCV000136612] Chr11:125241472..134998513 [GRCh38]
Chr11:125111368..134868407 [GRCh37]
Chr11:124616578..134373617 [NCBI36]
Chr11:11q24.2-25
pathogenic
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 copy number gain See cases [RCV000137582] Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3 copy number gain See cases [RCV000137453] Chr11:116868935..135075271 [GRCh38]
Chr11:116739651..134945165 [GRCh37]
Chr11:116244861..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic|conflicting data from submitters
GRCh38/hg38 11q24.2-25(chr11:127564482-135075271)x1 copy number loss See cases [RCV000137719] Chr11:127564482..135075271 [GRCh38]
Chr11:127434377..134945165 [GRCh37]
Chr11:126939587..134450377 [NCBI36]
Chr11:11q24.2-25
pathogenic|likely benign
GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1 copy number loss See cases [RCV000138014] Chr11:121780459..135075271 [GRCh38]
Chr11:121651167..134945165 [GRCh37]
Chr11:121156377..134450377 [NCBI36]
Chr11:11q24.1-25
pathogenic
GRCh38/hg38 11q24.2-25(chr11:126046358-135075271)x1 copy number loss See cases [RCV000138163] Chr11:126046358..135075271 [GRCh38]
Chr11:125916253..134945165 [GRCh37]
Chr11:125421463..134450377 [NCBI36]
Chr11:11q24.2-25
pathogenic
GRCh38/hg38 11q24.2-25(chr11:124940059-135075271)x1 copy number loss See cases [RCV000138675] Chr11:124940059..135075271 [GRCh38]
Chr11:124809955..134945165 [GRCh37]
Chr11:124315165..134450377 [NCBI36]
Chr11:11q24.2-25
pathogenic|likely benign
GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1 copy number loss See cases [RCV000138373] Chr11:120515759..135075271 [GRCh38]
Chr11:120386468..134945165 [GRCh37]
Chr11:119891678..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 copy number gain See cases [RCV000138307] Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1 copy number loss See cases [RCV000138544] Chr11:123963074..135075271 [GRCh38]
Chr11:123833781..134945165 [GRCh37]
Chr11:123338991..134450377 [NCBI36]
Chr11:11q24.1-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1 copy number loss See cases [RCV000138947] Chr11:119424297..135075271 [GRCh38]
Chr11:119295007..134945165 [GRCh37]
Chr11:118800217..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic|likely benign
GRCh38/hg38 11q24.2-25(chr11:126199589-135075271)x1 copy number loss See cases [RCV000139117] Chr11:126199589..135075271 [GRCh38]
Chr11:126069484..134945165 [GRCh37]
Chr11:125574694..134450377 [NCBI36]
Chr11:11q24.2-25
pathogenic
GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1 copy number loss See cases [RCV000139907] Chr11:124315025..134818116 [GRCh38]
Chr11:124184921..134688010 [GRCh37]
Chr11:123690131..134193220 [NCBI36]
Chr11:11q24.2-25
pathogenic
GRCh38/hg38 11q24.3-25(chr11:128867946-133086998)x1 copy number loss See cases [RCV000139715] Chr11:128867946..133086998 [GRCh38]
Chr11:128737841..132956893 [GRCh37]
Chr11:128243051..132462103 [NCBI36]
Chr11:11q24.3-25
likely pathogenic
GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1 copy number loss See cases [RCV000139622] Chr11:121689052..135075271 [GRCh38]
Chr11:121559760..134945165 [GRCh37]
Chr11:121064970..134450377 [NCBI36]
Chr11:11q24.1-25
pathogenic|likely benign
GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1 copy number loss See cases [RCV000142210] Chr11:121806547..135068576 [GRCh38]
Chr11:121677255..134938470 [GRCh37]
Chr11:121182465..134443680 [NCBI36]
Chr11:11q24.1-25
pathogenic
GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1 copy number loss See cases [RCV000142185] Chr11:121611476..135068576 [GRCh38]
Chr11:121482185..134938470 [GRCh37]
Chr11:120987395..134443680 [NCBI36]
Chr11:11q24.1-25
pathogenic
GRCh38/hg38 11q24.3-25(chr11:127915964-135068576)x1 copy number loss See cases [RCV000143755] Chr11:127915964..135068576 [GRCh38]
Chr11:127785859..134938470 [GRCh37]
Chr11:127291069..134443680 [NCBI36]
Chr11:11q24.3-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000148276] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:119807473-134868407)x1 copy number loss See cases [RCV000240237] Chr11:119807473..134868407 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_000890.5(KCNJ5):c.121C>T (p.Arg41Cys) single nucleotide variant Cardiovascular phenotype [RCV000242960]|Congenital long QT syndrome [RCV000351711]|Familial hyperaldosteronism type III [RCV000392796]|Long QT syndrome [RCV000168312]|Primary dilated cardiomyopathy [RCV000852660]|not provided [RCV001699050]|not specified [RCV000441037] Chr11:128911394 [GRCh38]
Chr11:128781289 [GRCh37]
Chr11:11q24.3
benign|likely benign
NM_000890.5(KCNJ5):c.492G>T (p.Gly164=) single nucleotide variant Long QT syndrome [RCV001393952] Chr11:128911765 [GRCh38]
Chr11:128781660 [GRCh37]
Chr11:11q24.3
likely benign|uncertain significance
NM_000890.5(KCNJ5):c.957G>A (p.Arg319=) single nucleotide variant Cardiovascular phenotype [RCV002381677]|Congenital long QT syndrome [RCV000297407]|Familial hyperaldosteronism type III [RCV000406934]|Long QT syndrome [RCV000198899]|not specified [RCV000429691] Chr11:128916428 [GRCh38]
Chr11:128786323 [GRCh37]
Chr11:11q24.3
benign|likely benign
NM_000890.5(KCNJ5):c.86C>A (p.Ala29Asp) single nucleotide variant Long QT syndrome [RCV000199204] Chr11:128911359 [GRCh38]
Chr11:128781254 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.658C>T (p.Arg220Trp) single nucleotide variant Familial hyperaldosteronism type III [RCV003147403]|Long QT syndrome [RCV000200249] Chr11:128911931 [GRCh38]
Chr11:128781826 [GRCh37]
Chr11:11q24.3
uncertain significance
GRCh37/hg19 11q23.3-25(chr11:120615374-134868407)x1 copy number loss See cases [RCV000239781] Chr11:120615374..134868407 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_000890.5(KCNJ5):c.667G>A (p.Asp223Asn) single nucleotide variant Long QT syndrome [RCV000206619] Chr11:128911940 [GRCh38]
Chr11:128781835 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.825C>A (p.Ile275=) single nucleotide variant Cardiovascular phenotype [RCV002426958]|Long QT syndrome 13 [RCV002503801]|Long QT syndrome [RCV000203716]|not provided [RCV001697238] Chr11:128912098 [GRCh38]
Chr11:128781993 [GRCh37]
Chr11:11q24.3
likely benign
GRCh37/hg19 11q24.2-25(chr11:125446101-134904063) copy number loss 11q partial monosomy syndrome [RCV000767602] Chr11:125446101..134904063 [GRCh37]
Chr11:11q24.2-25
pathogenic
NM_000890.5(KCNJ5):c.1124G>A (p.Arg375Gln) single nucleotide variant Cardiovascular phenotype [RCV002433959]|Long QT syndrome 13 [RCV002487053]|Long QT syndrome [RCV000231570] Chr11:128916595 [GRCh38]
Chr11:128786490 [GRCh37]
Chr11:11q24.3
likely benign|uncertain significance
GRCh37/hg19 11q24.3(chr11:128047942-129015375)x1 copy number loss See cases [RCV000511329] Chr11:128047942..129015375 [GRCh37]
Chr11:11q24.3
likely pathogenic
NM_000890.5(KCNJ5):c.990C>A (p.Gly330=) single nucleotide variant Long QT syndrome [RCV001475024]|not specified [RCV000605747] Chr11:128916461 [GRCh38]
Chr11:128786356 [GRCh37]
Chr11:11q24.3
likely benign
GRCh37/hg19 11q24.1-25(chr11:121416261-134938470)x1 copy number loss See cases [RCV000511335] Chr11:121416261..134938470 [GRCh37]
Chr11:11q24.1-25
pathogenic
GRCh37/hg19 11q24.2-25(chr11:126631558-134868407)x1 copy number loss See cases [RCV000240313] Chr11:126631558..134868407 [GRCh37]
Chr11:11q24.2-25
pathogenic
NM_000890.5(KCNJ5):c.*547G>A single nucleotide variant Congenital long QT syndrome [RCV000357561]|Familial hyperaldosteronism type III [RCV000267543] Chr11:128917278 [GRCh38]
Chr11:128787173 [GRCh37]
Chr11:11q24.3
benign|likely benign
NM_000890.5(KCNJ5):c.430A>G (p.Ile144Val) single nucleotide variant Cardiovascular phenotype [RCV002328803]|Congenital long QT syndrome [RCV000267619]|Familial hyperaldosteronism type III [RCV000357625]|Long QT syndrome 13 [RCV002470842]|Long QT syndrome [RCV001062268]|not provided [RCV003133217] Chr11:128911703 [GRCh38]
Chr11:128781598 [GRCh37]
Chr11:11q24.3
likely benign|uncertain significance
NM_000890.5(KCNJ5):c.*936C>G single nucleotide variant Congenital long QT syndrome [RCV000267773]|Familial hyperaldosteronism type III [RCV000315943]|Long QT syndrome 13 [RCV002494951] Chr11:128917667 [GRCh38]
Chr11:128787562 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.273C>T (p.Leu91=) single nucleotide variant Cardiovascular phenotype [RCV002436144]|Congenital long QT syndrome [RCV000392793]|Familial hyperaldosteronism [RCV000302723]|Long QT syndrome 13 [RCV002504062]|Long QT syndrome [RCV001394354]|not specified [RCV000428341] Chr11:128911546 [GRCh38]
Chr11:128781441 [GRCh37]
Chr11:11q24.3
benign|likely benign
NM_000890.5(KCNJ5):c.*928C>T single nucleotide variant Congenital long QT syndrome [RCV000303119]|Familial hyperaldosteronism type III [RCV000360179]|not provided [RCV001660590] Chr11:128917659 [GRCh38]
Chr11:128787554 [GRCh37]
Chr11:11q24.3
benign
NM_000890.5(KCNJ5):c.*34G>T single nucleotide variant Congenital long QT syndrome [RCV000381992]|Familial hyperaldosteronism type III [RCV000269040]|not provided [RCV001582936] Chr11:128916765 [GRCh38]
Chr11:128786660 [GRCh37]
Chr11:11q24.3
benign|likely benign
NM_000890.5(KCNJ5):c.*121G>T single nucleotide variant Congenital long QT syndrome [RCV000285934]|Familial hyperaldosteronism type III [RCV000380257] Chr11:128916852 [GRCh38]
Chr11:128786747 [GRCh37]
Chr11:11q24.3
benign|likely benign
NM_000890.5(KCNJ5):c.*1063G>A single nucleotide variant Congenital long QT syndrome [RCV000305788]|Familial hyperaldosteronism type III [RCV000401496]|not provided [RCV001653490] Chr11:128917794 [GRCh38]
Chr11:128787689 [GRCh37]
Chr11:11q24.3
benign
NM_000890.5(KCNJ5):c.*1310C>T single nucleotide variant Congenital long QT syndrome [RCV000329420]|Familial hyperaldosteronism type III [RCV000272083] Chr11:128918041 [GRCh38]
Chr11:128787936 [GRCh37]
Chr11:11q24.3
benign|likely benign
NM_000890.5(KCNJ5):c.*779G>T single nucleotide variant Congenital long QT syndrome [RCV000350245]|Familial hyperaldosteronism type III [RCV000401982]|not provided [RCV001612956] Chr11:128917510 [GRCh38]
Chr11:128787405 [GRCh37]
Chr11:11q24.3
benign
NM_000890.5(KCNJ5):c.*977T>C single nucleotide variant Congenital long QT syndrome [RCV000388891]|Familial hyperaldosteronism type III [RCV000287902] Chr11:128917708 [GRCh38]
Chr11:128787603 [GRCh37]
Chr11:11q24.3
benign|likely benign
NM_000890.5(KCNJ5):c.*96G>A single nucleotide variant Congenital long QT syndrome [RCV000328750]|Familial hyperaldosteronism type III [RCV000383292]|not provided [RCV003422251] Chr11:128916827 [GRCh38]
Chr11:128786722 [GRCh37]
Chr11:11q24.3
benign|likely benign
NM_000890.5(KCNJ5):c.*528C>T single nucleotide variant Congenital long QT syndrome [RCV000273313]|Familial hyperaldosteronism type III [RCV000328372] Chr11:128917259 [GRCh38]
Chr11:128787154 [GRCh37]
Chr11:11q24.3
benign
NM_000890.5(KCNJ5):c.-293C>G single nucleotide variant Congenital long QT syndrome [RCV000368700]|Familial hyperaldosteronism type III [RCV000274121]|not provided [RCV001653486] Chr11:128891439 [GRCh38]
Chr11:128761334 [GRCh37]
Chr11:11q24.3
benign|uncertain significance
NM_000890.5(KCNJ5):c.*861GTTTT[8] microsatellite Congenital long QT syndrome [RCV000309192]|Familial hyperaldosteronism [RCV000399885]|not provided [RCV001597053] Chr11:128917591..128917595 [GRCh38]
Chr11:128787486..128787490 [GRCh37]
Chr11:11q24.3
benign|uncertain significance
NM_000890.5(KCNJ5):c.*1091G>A single nucleotide variant Congenital long QT syndrome [RCV000353736]|Familial hyperaldosteronism type III [RCV000407154]|not provided [RCV002051837] Chr11:128917822 [GRCh38]
Chr11:128787717 [GRCh37]
Chr11:11q24.3
benign|likely benign
NM_000890.5(KCNJ5):c.*1168C>G single nucleotide variant Congenital long QT syndrome [RCV000274122]|Familial hyperaldosteronism type III [RCV000312810]|not provided [RCV001672443] Chr11:128917899 [GRCh38]
Chr11:128787794 [GRCh37]
Chr11:11q24.3
benign
NM_000890.5(KCNJ5):c.*410C>T single nucleotide variant Congenital long QT syndrome [RCV000371173]|Familial hyperaldosteronism type III [RCV000276631] Chr11:128917141 [GRCh38]
Chr11:128787036 [GRCh37]
Chr11:11q24.3
benign
NM_000890.5(KCNJ5):c.*976G>A single nucleotide variant Congenital long QT syndrome [RCV000293326]|Familial hyperaldosteronism type III [RCV000331986]|not provided [RCV001653489] Chr11:128917707 [GRCh38]
Chr11:128787602 [GRCh37]
Chr11:11q24.3
benign
NM_000890.5(KCNJ5):c.*759C>T single nucleotide variant Congenital long QT syndrome [RCV000293073]|Familial hyperaldosteronism type III [RCV000375796]|not provided [RCV002244749] Chr11:128917490 [GRCh38]
Chr11:128787385 [GRCh37]
Chr11:11q24.3
benign|likely benign
NM_000890.5(KCNJ5):c.*200C>A single nucleotide variant Congenital long QT syndrome [RCV000336068]|Familial hyperaldosteronism type III [RCV000398878] Chr11:128916931 [GRCh38]
Chr11:128786826 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.*1338C>A single nucleotide variant Congenital long QT syndrome [RCV000336476]|Familial hyperaldosteronism [RCV000279109] Chr11:128918069 [GRCh38]
Chr11:128787964 [GRCh37]
Chr11:11q24.3
benign
NM_000890.5(KCNJ5):c.744G>A (p.Glu248=) single nucleotide variant Cardiovascular phenotype [RCV002379174]|Congenital long QT syndrome [RCV000260142]|Familial hyperaldosteronism type III [RCV000319972]|Long QT syndrome 13 [RCV002494950]|Long QT syndrome [RCV001517162]|not provided [RCV000827914] Chr11:128912017 [GRCh38]
Chr11:128781912 [GRCh37]
Chr11:11q24.3
benign|likely benign
NM_000890.5(KCNJ5):c.1254G>A (p.Ser418=) single nucleotide variant Cardiovascular phenotype [RCV002411195]|Congenital long QT syndrome [RCV000276947]|Familial hyperaldosteronism type III [RCV000332034]|Long QT syndrome [RCV002056178] Chr11:128916725 [GRCh38]
Chr11:128786620 [GRCh37]
Chr11:11q24.3
benign|likely benign
NM_000890.5(KCNJ5):c.*1216C>T single nucleotide variant Congenital long QT syndrome [RCV000277891]|Familial hyperaldosteronism type III [RCV000370090] Chr11:128917947 [GRCh38]
Chr11:128787842 [GRCh37]
Chr11:11q24.3
benign|likely benign
NM_000890.5(KCNJ5):c.-63G>C single nucleotide variant Congenital long QT syndrome [RCV000296557]|Familial hyperaldosteronism type III [RCV000401132] Chr11:128891669 [GRCh38]
Chr11:128761564 [GRCh37]
Chr11:11q24.3
likely benign|uncertain significance
NM_000890.5(KCNJ5):c.*936C>T single nucleotide variant Congenital long QT syndrome [RCV000354566]|Familial hyperaldosteronism type III [RCV000262035]|not provided [RCV002051836] Chr11:128917667 [GRCh38]
Chr11:128787562 [GRCh37]
Chr11:11q24.3
benign|likely benign
NM_000890.5(KCNJ5):c.*1338del deletion Congenital long QT syndrome [RCV000379581]|Familial hyperaldosteronism [RCV000341267] Chr11:128918069 [GRCh38]
Chr11:128787964 [GRCh37]
Chr11:11q24.3
benign
NM_000890.5(KCNJ5):c.*960G>C single nucleotide variant Congenital long QT syndrome [RCV000385811]|Familial hyperaldosteronism type III [RCV000319616] Chr11:128917691 [GRCh38]
Chr11:128787586 [GRCh37]
Chr11:11q24.3
likely benign|uncertain significance
NM_000890.5(KCNJ5):c.-295C>G single nucleotide variant Congenital long QT syndrome [RCV000372452]|Familial hyperaldosteronism type III [RCV000320142]|not provided [RCV001711779] Chr11:128891437 [GRCh38]
Chr11:128761332 [GRCh37]
Chr11:11q24.3
benign|uncertain significance
NM_000890.5(KCNJ5):c.-303_-291delinsGAGAGAGAGAGAGAGAGAGAGAG indel Congenital long QT syndrome [RCV000280685]|Familial hyperaldosteronism [RCV000338099] Chr11:128891429..128891441 [GRCh38]
Chr11:128761324..128761336 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-291_-286del deletion Congenital long QT syndrome [RCV000270565]|Familial hyperaldosteronism [RCV000325571] Chr11:128891440..128891445 [GRCh38]
Chr11:128761335..128761340 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-253G>T single nucleotide variant Congenital long QT syndrome [RCV000350501]|Familial hyperaldosteronism type III [RCV000281407] Chr11:128891479 [GRCh38]
Chr11:128761374 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-289GA[20] microsatellite Congenital long QT syndrome [RCV000324582]|Familial hyperaldosteronism [RCV000264690] Chr11:128891441..128891442 [GRCh38]
Chr11:128761336..128761337 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.591G>A (p.Ala197=) single nucleotide variant Cardiovascular phenotype [RCV002356415]|Congenital long QT syndrome [RCV000354236]|Familial hyperaldosteronism type III [RCV000322723]|Long QT syndrome [RCV000550103] Chr11:128911864 [GRCh38]
Chr11:128781759 [GRCh37]
Chr11:11q24.3
benign|likely benign|uncertain significance
NM_000890.5(KCNJ5):c.-289GA[18] microsatellite Congenital long QT syndrome [RCV000398967]|Familial hyperaldosteronism [RCV000278502]|Long QT syndrome 13 [RCV002480106] Chr11:128891441..128891442 [GRCh38]
Chr11:128761336..128761337 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.*804G>T single nucleotide variant Congenital long QT syndrome [RCV000296511]|Familial hyperaldosteronism type III [RCV000344397]|not provided [RCV001653487] Chr11:128917535 [GRCh38]
Chr11:128787430 [GRCh37]
Chr11:11q24.3
benign
NM_000890.5(KCNJ5):c.-293_-288del deletion Congenital long QT syndrome [RCV000261502]|Familial hyperaldosteronism [RCV000333106]|not provided [RCV001636865] Chr11:128891438..128891443 [GRCh38]
Chr11:128761333..128761338 [GRCh37]
Chr11:11q24.3
benign|uncertain significance
NM_000890.5(KCNJ5):c.-301_-291delinsGAGAGAG indel Congenital long QT syndrome [RCV000272685]|Familial hyperaldosteronism [RCV000325343] Chr11:128891431..128891441 [GRCh38]
Chr11:128761326..128761336 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.*1302C>T single nucleotide variant Congenital long QT syndrome [RCV000325776]|Familial hyperaldosteronism type III [RCV000382747] Chr11:128918033 [GRCh38]
Chr11:128787928 [GRCh37]
Chr11:11q24.3
benign|likely benign
NM_000890.5(KCNJ5):c.968T>C (p.Met323Thr) single nucleotide variant Congenital long QT syndrome [RCV000262103]|Familial hyperaldosteronism type III [RCV000356828]|Long QT syndrome [RCV002522188] Chr11:128916439 [GRCh38]
Chr11:128786334 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-293GA[4] microsatellite Congenital long QT syndrome [RCV000262249]|Familial hyperaldosteronism [RCV000359244]|not provided [RCV002278384] Chr11:128891437..128891438 [GRCh38]
Chr11:128761332..128761333 [GRCh37]
Chr11:11q24.3
likely benign|uncertain significance
NM_000890.5(KCNJ5):c.-289GA[19] microsatellite Congenital long QT syndrome [RCV000392268]|Familial hyperaldosteronism [RCV000337855]|Long QT syndrome 13 [RCV002480107] Chr11:128891441..128891442 [GRCh38]
Chr11:128761336..128761337 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-291GA[3] microsatellite Congenital long QT syndrome [RCV000299994]|Familial hyperaldosteronism [RCV000263599] Chr11:128891439..128891440 [GRCh38]
Chr11:128761334..128761335 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.*449A>T single nucleotide variant Familial hyperaldosteronism type III [RCV000363230] Chr11:128917180 [GRCh38]
Chr11:128787075 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.800G>A (p.Arg267His) single nucleotide variant Congenital long QT syndrome [RCV000275360]|Familial hyperaldosteronism type III [RCV000374578] Chr11:128912073 [GRCh38]
Chr11:128781968 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.*378dup duplication Congenital long QT syndrome [RCV000311867]|Familial hyperaldosteronism [RCV000407864] Chr11:128917106..128917107 [GRCh38]
Chr11:128787001..128787002 [GRCh37]
Chr11:11q24.3
benign
NM_000890.5(KCNJ5):c.-289G>C single nucleotide variant Congenital long QT syndrome [RCV000366828]|Familial hyperaldosteronism type III [RCV000312199] Chr11:128891443 [GRCh38]
Chr11:128761338 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-287G>C single nucleotide variant Congenital long QT syndrome [RCV000392258]|Familial hyperaldosteronism type III [RCV000313419] Chr11:128891445 [GRCh38]
Chr11:128761340 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-297_-291delinsGAGAGAGAGAGAGAGAG indel Congenital long QT syndrome [RCV000278157]|Familial hyperaldosteronism [RCV000374990] Chr11:128891435..128891441 [GRCh38]
Chr11:128761330..128761336 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-301_-291delinsGAGAGAGAGAGAGAG indel Congenital long QT syndrome [RCV000363821]|Familial hyperaldosteronism [RCV000266866] Chr11:128891431..128891441 [GRCh38]
Chr11:128761326..128761336 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-293GA[3] microsatellite Congenital long QT syndrome [RCV000268155]|Familial hyperaldosteronism [RCV000302247]|not provided [RCV001805010] Chr11:128891437..128891438 [GRCh38]
Chr11:128761332..128761333 [GRCh37]
Chr11:11q24.3
likely benign|uncertain significance
NM_000890.5(KCNJ5):c.*747A>G single nucleotide variant Congenital long QT syndrome [RCV000280228]|Familial hyperaldosteronism type III [RCV000318891] Chr11:128917478 [GRCh38]
Chr11:128787373 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-272A>G single nucleotide variant Congenital long QT syndrome [RCV000379022]|Familial hyperaldosteronism type III [RCV000279824] Chr11:128891460 [GRCh38]
Chr11:128761355 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-284_-283insAAGAGA insertion Congenital long QT syndrome [RCV000363460]|Familial hyperaldosteronism [RCV000268963] Chr11:128891443..128891444 [GRCh38]
Chr11:128761338..128761339 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.*1024A>G single nucleotide variant Congenital long QT syndrome [RCV000291265]|Familial hyperaldosteronism type III [RCV000339291] Chr11:128917755 [GRCh38]
Chr11:128787650 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.*978T>G single nucleotide variant Congenital long QT syndrome [RCV000345161]|Familial hyperaldosteronism type III [RCV000399459] Chr11:128917709 [GRCh38]
Chr11:128787604 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-258_-255del deletion Congenital long QT syndrome [RCV000375530]|Familial hyperaldosteronism [RCV000316316] Chr11:128891474..128891477 [GRCh38]
Chr11:128761369..128761372 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAG indel Congenital long QT syndrome [RCV000293255]|Familial hyperaldosteronism [RCV000389689] Chr11:128891439..128891441 [GRCh38]
Chr11:128761334..128761336 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAGAGAGAG indel Congenital long QT syndrome [RCV000305161]|Familial hyperaldosteronism [RCV000406968] Chr11:128891439..128891441 [GRCh38]
Chr11:128761334..128761336 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-295_-291delinsGAGAGAGAGAGAGAGAGAG indel Congenital long QT syndrome [RCV000347962]|Familial hyperaldosteronism [RCV000391627] Chr11:128891437..128891441 [GRCh38]
Chr11:128761332..128761336 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-291_-288del deletion Congenital long QT syndrome [RCV000388325]|Familial hyperaldosteronism [RCV000333770] Chr11:128891440..128891443 [GRCh38]
Chr11:128761335..128761338 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.*861GTTTT[7] microsatellite Congenital long QT syndrome [RCV000392654]|Familial hyperaldosteronism [RCV000366259]|not provided [RCV001653488] Chr11:128917591..128917600 [GRCh38]
Chr11:128787486..128787495 [GRCh37]
Chr11:11q24.3
benign
NM_000890.5(KCNJ5):c.-297_-291delinsGAGAGAGAGAGAGAG indel Congenital long QT syndrome [RCV000284371]|Familial hyperaldosteronism [RCV000318376] Chr11:128891435..128891441 [GRCh38]
Chr11:128761330..128761336 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.*103G>C single nucleotide variant Congenital long QT syndrome [RCV000339786]|Familial hyperaldosteronism type III [RCV000284736] Chr11:128916834 [GRCh38]
Chr11:128786729 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-295_-291delinsGAGAGAGAGAG indel Congenital long QT syndrome [RCV000295845]|Familial hyperaldosteronism [RCV000348386] Chr11:128891437..128891441 [GRCh38]
Chr11:128761332..128761336 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-295GA[3] microsatellite Congenital long QT syndrome [RCV000335459]|Familial hyperaldosteronism [RCV000400789] Chr11:128891435..128891436 [GRCh38]
Chr11:128761330..128761331 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAG indel Congenital long QT syndrome [RCV000384025]|Familial hyperaldosteronism [RCV000350496] Chr11:128891439..128891441 [GRCh38]
Chr11:128761334..128761336 [GRCh37]
Chr11:11q24.3
pathogenic|uncertain significance
NM_000890.5(KCNJ5):c.*1323del deletion Congenital long QT syndrome [RCV000377179]|Familial hyperaldosteronism [RCV000285077] Chr11:128918054 [GRCh38]
Chr11:128787949 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-301_-291delinsGAG indel Congenital long QT syndrome [RCV000403480]|Familial hyperaldosteronism [RCV000369815] Chr11:128891431..128891441 [GRCh38]
Chr11:128761326..128761336 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-294_-293insGAGA insertion Congenital long QT syndrome [RCV000360545]|Familial hyperaldosteronism [RCV000308189] Chr11:128891437..128891438 [GRCh38]
Chr11:128761332..128761333 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-295_-291delinsGAGAGAGAGAGAG indel Congenital long QT syndrome [RCV000308828]|Familial hyperaldosteronism [RCV000391635] Chr11:128891437..128891441 [GRCh38]
Chr11:128761332..128761336 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-303_-291delinsGAGAG indel Congenital long QT syndrome [RCV000378579]|Familial hyperaldosteronism [RCV000286411] Chr11:128891429..128891441 [GRCh38]
Chr11:128761324..128761336 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.*667C>T single nucleotide variant Congenital long QT syndrome [RCV000372696]|Familial hyperaldosteronism type III [RCV000322669] Chr11:128917398 [GRCh38]
Chr11:128787293 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-303_-291delinsGAG indel Congenital long QT syndrome [RCV000287454]|Familial hyperaldosteronism [RCV000326094] Chr11:128891429..128891441 [GRCh38]
Chr11:128761324..128761336 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-333CA[24] microsatellite Congenital long QT syndrome [RCV000341775]|Familial hyperaldosteronism [RCV000286831] Chr11:128891397..128891398 [GRCh38]
Chr11:128761292..128761293 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAGAGAG indel Congenital long QT syndrome [RCV000344874]|Familial hyperaldosteronism [RCV000287529] Chr11:128891439..128891441 [GRCh38]
Chr11:128761334..128761336 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-299_-291delinsGAGAG indel Congenital long QT syndrome [RCV000376406]|Familial hyperaldosteronism [RCV000324088] Chr11:128891433..128891441 [GRCh38]
Chr11:128761328..128761336 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAGAGAGAGAGAGAG indel Congenital long QT syndrome [RCV000339137]|Familial hyperaldosteronism [RCV000406970] Chr11:128891439..128891441 [GRCh38]
Chr11:128761334..128761336 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-303_-291delinsGAGAGAG indel Congenital long QT syndrome [RCV000398728]|Familial hyperaldosteronism [RCV000339218] Chr11:128891429..128891441 [GRCh38]
Chr11:128761324..128761336 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-301_-291delinsG indel Congenital long QT syndrome [RCV000391238]|Familial hyperaldosteronism [RCV000298755] Chr11:128891431..128891441 [GRCh38]
Chr11:128761326..128761336 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-293_-289delinsGAGAGAGAGAGAA indel Congenital long QT syndrome [RCV000299424]|Familial hyperaldosteronism [RCV000356627]|Long QT syndrome 13 [RCV002504061] Chr11:128891439..128891443 [GRCh38]
Chr11:128761334..128761338 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-291delinsGAGAGAGAGAG indel Congenital long QT syndrome [RCV000376600]|Familial hyperaldosteronism [RCV000340598] Chr11:128891441 [GRCh38]
Chr11:128761336 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.1190A>G (p.Glu397Gly) single nucleotide variant Cardiovascular phenotype [RCV002341266]|Long QT syndrome [RCV000531349]|not provided [RCV000786147] Chr11:128916661 [GRCh38]
Chr11:128786556 [GRCh37]
Chr11:11q24.3
likely benign|uncertain significance
NM_000890.5(KCNJ5):c.*1151C>T single nucleotide variant Congenital long QT syndrome [RCV000357001]|Familial hyperaldosteronism type III [RCV000299798] Chr11:128917882 [GRCh38]
Chr11:128787777 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-301_-291delinsGAGAG indel Congenital long QT syndrome [RCV000311493]|Familial hyperaldosteronism [RCV000368545] Chr11:128891431..128891441 [GRCh38]
Chr11:128761326..128761336 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-305_-291delinsGAGAG indel Congenital long QT syndrome [RCV000327384]|Familial hyperaldosteronism [RCV000384241] Chr11:128891427..128891441 [GRCh38]
Chr11:128761322..128761336 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.*228G>T single nucleotide variant Congenital long QT syndrome [RCV000301019]|Familial hyperaldosteronism type III [RCV000337296] Chr11:128916959 [GRCh38]
Chr11:128786854 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-285G>C single nucleotide variant Congenital long QT syndrome [RCV000328098]|Familial hyperaldosteronism type III [RCV000359449]|Long QT syndrome 13 [RCV002502203] Chr11:128891447 [GRCh38]
Chr11:128761342 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-291delinsGAGAGAGAG indel Congenital long QT syndrome [RCV000384638]|Familial hyperaldosteronism [RCV000290272] Chr11:128891441 [GRCh38]
Chr11:128761336 [GRCh37]
Chr11:11q24.3
uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) copy number gain not provided [RCV000767816] Chr11:116700253..134904063 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_000890.5(KCNJ5):c.518T>G (p.Ile173Ser) single nucleotide variant not provided [RCV000523735] Chr11:128911791 [GRCh38]
Chr11:128781686 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.330C>T (p.Leu110=) single nucleotide variant Long QT syndrome [RCV001415725] Chr11:128911603 [GRCh38]
Chr11:128781498 [GRCh37]
Chr11:11q24.3
likely benign
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000449449] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q24.2-25(chr11:125662934-134938470)x1 copy number loss See cases [RCV000447129] Chr11:125662934..134938470 [GRCh37]
Chr11:11q24.2-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:119513909-134938470)x1 copy number loss See cases [RCV000447077] Chr11:119513909..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_000890.5(KCNJ5):c.192C>T (p.His64=) single nucleotide variant Cardiovascular phenotype [RCV002411295]|Long QT syndrome [RCV000631821]|not provided [RCV001705577] Chr11:128911465 [GRCh38]
Chr11:128781360 [GRCh37]
Chr11:11q24.3
benign|likely benign
NM_000890.5(KCNJ5):c.938-11C>T single nucleotide variant Long QT syndrome [RCV002061660]|not specified [RCV000428656] Chr11:128916398 [GRCh38]
Chr11:128786293 [GRCh37]
Chr11:11q24.3
benign
GRCh37/hg19 11q24.1-25(chr11:121501072-134868348)x1 copy number loss See cases [RCV000445814] Chr11:121501072..134868348 [GRCh37]
Chr11:11q24.1-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 copy number gain See cases [RCV000447848] Chr11:116684163..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q24.1-25(chr11:121559102-134938470)x1 copy number loss See cases [RCV000449003] Chr11:121559102..134938470 [GRCh37]
Chr11:11q24.1-25
pathogenic
GRCh37/hg19 11q24.1-25(chr11:122403610-134938470)x1 copy number loss See cases [RCV000448215] Chr11:122403610..134938470 [GRCh37]
Chr11:11q24.1-25
pathogenic
NM_000890.5(KCNJ5):c.837G>A (p.Glu279=) single nucleotide variant Cardiovascular phenotype [RCV002436471]|Long QT syndrome [RCV000460530]|not provided [RCV000603770] Chr11:128912110 [GRCh38]
Chr11:128782005 [GRCh37]
Chr11:11q24.3
benign|likely benign
NM_000890.5(KCNJ5):c.866T>C (p.Met289Thr) single nucleotide variant Long QT syndrome [RCV000460782] Chr11:128912139 [GRCh38]
Chr11:128782034 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.843_844delinsTG (p.Gln282Glu) indel Long QT syndrome [RCV001495213] Chr11:128912116..128912117 [GRCh38]
Chr11:128782011..128782012 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.630G>A (p.Met210Ile) single nucleotide variant Cardiovascular phenotype [RCV002356632]|Long QT syndrome [RCV000468919]|not provided [RCV001578115] Chr11:128911903 [GRCh38]
Chr11:128781798 [GRCh37]
Chr11:11q24.3
likely benign|uncertain significance
NM_000890.5(KCNJ5):c.1121G>T (p.Gly374Val) single nucleotide variant not provided [RCV000486137] Chr11:128916592 [GRCh38]
Chr11:128786487 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.1184A>C (p.Asp395Ala) single nucleotide variant Long QT syndrome 13 [RCV002502600]|Long QT syndrome [RCV000474975] Chr11:128916655 [GRCh38]
Chr11:128786550 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.616G>A (p.Ala206Thr) single nucleotide variant Hypertrophic cardiomyopathy [RCV000498609]|Long QT syndrome [RCV002523429] Chr11:128911889 [GRCh38]
Chr11:128781784 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.439G>A (p.Glu147Lys) single nucleotide variant Cardiovascular phenotype [RCV002329183]|Long QT syndrome 13 [RCV002489216]|Long QT syndrome [RCV000692441]|not provided [RCV000498346]|not specified [RCV001824811] Chr11:128911712 [GRCh38]
Chr11:128781607 [GRCh37]
Chr11:11q24.3
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_000890.5(KCNJ5):c.665G>A (p.Gly222Asp) single nucleotide variant Long QT syndrome 13 [RCV002489207]|Long QT syndrome [RCV001368294]|not provided [RCV000493275] Chr11:128911938 [GRCh38]
Chr11:128781833 [GRCh37]
Chr11:11q24.3
uncertain significance
GRCh37/hg19 11q24.1-25(chr11:122884694-134938470)x3 copy number gain See cases [RCV000511146] Chr11:122884694..134938470 [GRCh37]
Chr11:11q24.1-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:120527021-134938470)x1 copy number loss See cases [RCV000511283] Chr11:120527021..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q24.2-25(chr11:126762944-134938470)x1 copy number loss See cases [RCV000511303] Chr11:126762944..134938470 [GRCh37]
Chr11:11q24.2-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:121136603-134938470)x1 copy number loss See cases [RCV000510856] Chr11:121136603..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_000890.5(KCNJ5):c.397C>T (p.Leu133Phe) single nucleotide variant Long QT syndrome [RCV000556447] Chr11:128911670 [GRCh38]
Chr11:128781565 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.1186G>A (p.Ala396Thr) single nucleotide variant Cardiovascular phenotype [RCV002334033]|Long QT syndrome 13 [RCV002477360]|Long QT syndrome [RCV000622690] Chr11:128916657 [GRCh38]
Chr11:128786552 [GRCh37]
Chr11:11q24.3
uncertain significance
GRCh37/hg19 11q24.2-24.3(chr11:126809705-130289168) copy number loss not provided [RCV000767568] Chr11:126809705..130289168 [GRCh37]
Chr11:11q24.2-24.3
pathogenic
NM_000890.5(KCNJ5):c.41A>T (p.Glu14Val) single nucleotide variant Long QT syndrome [RCV000537051] Chr11:128911314 [GRCh38]
Chr11:128781209 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.1152A>G (p.Pro384=) single nucleotide variant Cardiovascular phenotype [RCV002350456]|not specified [RCV000616120] Chr11:128916623 [GRCh38]
Chr11:128786518 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.408C>T (p.Phe136=) single nucleotide variant Cardiovascular phenotype [RCV000618901]|Long QT syndrome 13 [RCV002491312]|Long QT syndrome [RCV001404607] Chr11:128911681 [GRCh38]
Chr11:128781576 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.738G>A (p.Glu246=) single nucleotide variant Cardiovascular phenotype [RCV002385954]|Long QT syndrome 13 [RCV002491305]|Long QT syndrome [RCV000866293]|not provided [RCV001707843] Chr11:128912011 [GRCh38]
Chr11:128781906 [GRCh37]
Chr11:11q24.3
benign|likely benign
NM_000890.5(KCNJ5):c.1149C>T (p.Pro383=) single nucleotide variant Cardiovascular phenotype [RCV002457953]|Long QT syndrome 13 [RCV002498968]|Long QT syndrome [RCV000861924]|not provided [RCV001719073] Chr11:128916620 [GRCh38]
Chr11:128786515 [GRCh37]
Chr11:11q24.3
benign|likely benign
NM_000890.5(KCNJ5):c.-11+14T>C single nucleotide variant not specified [RCV000609049] Chr11:128891735 [GRCh38]
Chr11:128761630 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.750C>T (p.Ile250=) single nucleotide variant not specified [RCV000604702] Chr11:128912023 [GRCh38]
Chr11:128781918 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.795C>T (p.Asp265=) single nucleotide variant Long QT syndrome 13 [RCV002491280]|Long QT syndrome [RCV000631783]|not specified [RCV000611974] Chr11:128912068 [GRCh38]
Chr11:128781963 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.659G>T (p.Arg220Leu) single nucleotide variant Cardiovascular phenotype [RCV000619907] Chr11:128911932 [GRCh38]
Chr11:128781827 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.622A>G (p.Ile208Val) single nucleotide variant Long QT syndrome [RCV000631614] Chr11:128911895 [GRCh38]
Chr11:128781790 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.645G>A (p.Leu215=) single nucleotide variant Cardiovascular phenotype [RCV002360510]|Long QT syndrome 13 [RCV002499042]|Long QT syndrome [RCV000631797] Chr11:128911918 [GRCh38]
Chr11:128781813 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.90C>T (p.Arg30=) single nucleotide variant Cardiovascular phenotype [RCV002377300]|not specified [RCV000604062] Chr11:128911363 [GRCh38]
Chr11:128781258 [GRCh37]
Chr11:11q24.3
likely benign
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q24.3(chr11:128611917-128840390)x3 copy number gain See cases [RCV000512239] Chr11:128611917..128840390 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.864G>T (p.Glu288Asp) single nucleotide variant Hypertrophic cardiomyopathy [RCV000852661]|Long QT syndrome 13 [RCV000678924] Chr11:128912137 [GRCh38]
Chr11:128782032 [GRCh37]
Chr11:11q24.3
likely benign|uncertain significance
GRCh37/hg19 11q23.3-25(chr11:119538664-134938470)x1 copy number loss not provided [RCV000683371] Chr11:119538664..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q24.2-25(chr11:127690585-132404117)x1 copy number loss not provided [RCV000683367] Chr11:127690585..132404117 [GRCh37]
Chr11:11q24.2-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_000890.5(KCNJ5):c.554G>T (p.Cys185Phe) single nucleotide variant Cardiovascular phenotype [RCV002343476]|Long QT syndrome [RCV000693667]|not provided [RCV001756191] Chr11:128911827 [GRCh38]
Chr11:128781722 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.536A>G (p.Asn179Ser) single nucleotide variant Cardiovascular phenotype [RCV002343558]|Long QT syndrome [RCV000704864]|not provided [RCV002469269] Chr11:128911809 [GRCh38]
Chr11:128781704 [GRCh37]
Chr11:11q24.3
uncertain significance
Single allele deletion Paris-Trousseau thrombocytopenia [RCV001003843] Chr11:124226940..134944477 [GRCh37]
Chr11:11q24.2-25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
Single allele duplication Schizophrenia [RCV000754124] Chr11:118989374..135076622 [GRCh38]
Chr11:11q23.3-25
likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 copy number gain not provided [RCV000737686] Chr11:116697066..134934063 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q24.2-25(chr11:126362042-134938470)x3 copy number gain not provided [RCV000737697] Chr11:126362042..134938470 [GRCh37]
Chr11:11q24.2-25
pathogenic
GRCh37/hg19 11q24.2-25(chr11:127751691-134938470)x3 copy number gain not provided [RCV000737699] Chr11:127751691..134938470 [GRCh37]
Chr11:11q24.2-25
benign
GRCh37/hg19 11q24.2-25(chr11:125366454-134938470)x1 copy number loss not provided [RCV000750223] Chr11:125366454..134938470 [GRCh37]
Chr11:11q24.2-25
pathogenic
NM_000890.5(KCNJ5):c.792C>T (p.Gly264=) single nucleotide variant Cardiovascular phenotype [RCV002415982]|Familial hyperaldosteronism type III [RCV001102795]|Long QT syndrome [RCV000862177]|not provided [RCV001585806] Chr11:128912065 [GRCh38]
Chr11:128781960 [GRCh37]
Chr11:11q24.3
benign|likely benign
NM_000890.5(KCNJ5):c.843C>T (p.Asn281=) single nucleotide variant Cardiovascular phenotype [RCV002445019]|Long QT syndrome [RCV000919525] Chr11:128912116 [GRCh38]
Chr11:128782011 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.938-210TGGA[7] microsatellite not provided [RCV001569036] Chr11:128916198..128916199 [GRCh38]
Chr11:128786093..128786094 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.-10-8558T>C single nucleotide variant not provided [RCV000971025] Chr11:128902706 [GRCh38]
Chr11:128772601 [GRCh37]
Chr11:11q24.3
benign
NM_000890.5(KCNJ5):c.405C>T (p.Gly135=) single nucleotide variant Long QT syndrome [RCV000921902] Chr11:128911678 [GRCh38]
Chr11:128781573 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.312C>T (p.Phe104=) single nucleotide variant Cardiovascular phenotype [RCV002319997]|Long QT syndrome 13 [RCV002495284]|Long QT syndrome [RCV000868567]|not provided [RCV001655623] Chr11:128911585 [GRCh38]
Chr11:128781480 [GRCh37]
Chr11:11q24.3
benign|likely benign
NM_000890.5(KCNJ5):c.184G>A (p.Val62Met) single nucleotide variant Cardiovascular phenotype [RCV003160589]|Long QT syndrome [RCV001071561] Chr11:128911457 [GRCh38]
Chr11:128781352 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.725G>A (p.Arg242Gln) single nucleotide variant Long QT syndrome 13 [RCV002497361]|Long QT syndrome [RCV001037356] Chr11:128911998 [GRCh38]
Chr11:128781893 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.1151C>G (p.Pro384Arg) single nucleotide variant Cardiovascular phenotype [RCV002355107]|Long QT syndrome 13 [RCV001089531]|Long QT syndrome [RCV001305759] Chr11:128916622 [GRCh38]
Chr11:128786517 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.1137C>T (p.Tyr379=) single nucleotide variant Cardiovascular phenotype [RCV002453991]|Long QT syndrome [RCV001443901] Chr11:128916608 [GRCh38]
Chr11:128786503 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.723C>A (p.Ser241=) single nucleotide variant not provided [RCV000830826] Chr11:128911996 [GRCh38]
Chr11:128781891 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.1032T>C (p.Tyr344=) single nucleotide variant not provided [RCV000841729] Chr11:128916503 [GRCh38]
Chr11:128786398 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.1133A>C (p.Gln378Pro) single nucleotide variant Cardiovascular phenotype [RCV002442845]|Long QT syndrome [RCV002539046] Chr11:128916604 [GRCh38]
Chr11:128786499 [GRCh37]
Chr11:11q24.3
benign|uncertain significance
NM_000890.5(KCNJ5):c.674G>A (p.Arg225His) single nucleotide variant Cardiovascular phenotype [RCV002370145]|Long QT syndrome 13 [RCV002487729]|Long QT syndrome [RCV000806373] Chr11:128911947 [GRCh38]
Chr11:128781842 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.1158G>C (p.Leu386=) single nucleotide variant Cardiovascular phenotype [RCV002352486]|Long QT syndrome [RCV001493378]|not provided [RCV000840243] Chr11:128916629 [GRCh38]
Chr11:128786524 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.260G>A (p.Arg87His) single nucleotide variant Cardiovascular phenotype [RCV002433991]|Long QT syndrome [RCV000816978] Chr11:128911533 [GRCh38]
Chr11:128781428 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.937+109G>A single nucleotide variant not provided [RCV000831437] Chr11:128912319 [GRCh38]
Chr11:128782214 [GRCh37]
Chr11:11q24.3
benign
GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3 copy number gain not provided [RCV000848151] Chr11:117830263..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_000890.5(KCNJ5):c.1151C>A (p.Pro384Gln) single nucleotide variant Long QT syndrome [RCV000801419] Chr11:128916622 [GRCh38]
Chr11:128786517 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.171_172inv (p.Gly58Ser) inversion Long QT syndrome [RCV000802272] Chr11:128911444..128911445 [GRCh38]
Chr11:128781339..128781340 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.438C>T (p.Thr146=) single nucleotide variant Cardiovascular phenotype [RCV002332826]|Long QT syndrome 13 [RCV002495299]|Long QT syndrome [RCV001088301] Chr11:128911711 [GRCh38]
Chr11:128781606 [GRCh37]
Chr11:11q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 11q23.3-25(chr11:120576984-134934063)x1 copy number loss See cases [RCV000790567] Chr11:120576984..134934063 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_000890.5(KCNJ5):c.810_811delinsGA (p.Val271Met) indel Long QT syndrome [RCV000823081] Chr11:128912083..128912084 [GRCh38]
Chr11:128781978..128781979 [GRCh37]
Chr11:11q24.3
uncertain significance
GRCh37/hg19 11q24.3(chr11:128786032-128890846)x3 copy number gain not provided [RCV000846010] Chr11:128786032..128890846 [GRCh37]
Chr11:11q24.3
uncertain significance
GRCh37/hg19 11q24.3(chr11:128679460-128897473)x3 copy number gain not provided [RCV000847901] Chr11:128679460..128897473 [GRCh37]
Chr11:11q24.3
uncertain significance
GRCh37/hg19 11q23.3-25(chr11:120742540-134938470)x1 copy number loss not provided [RCV001006452] Chr11:120742540..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q24.3(chr11:128679460-128897473)x3 copy number gain not provided [RCV000847600] Chr11:128679460..128897473 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.316T>C (p.Phe106Leu) single nucleotide variant Long QT syndrome [RCV001211197] Chr11:128911589 [GRCh38]
Chr11:128781484 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.449T>C (p.Ile150Thr) single nucleotide variant Cardiovascular phenotype [RCV003294045]|Long QT syndrome [RCV001217132]|not provided [RCV003163669] Chr11:128911722 [GRCh38]
Chr11:128781617 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.1210G>C (p.Asp404His) single nucleotide variant Long QT syndrome [RCV001233155] Chr11:128916681 [GRCh38]
Chr11:128786576 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-9A>C single nucleotide variant Familial hyperaldosteronism type III [RCV001198661] Chr11:128911265 [GRCh38]
Chr11:128781160 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.724C>T (p.Arg242Trp) single nucleotide variant Cardiovascular phenotype [RCV003294056]|Long QT syndrome [RCV001219115] Chr11:128911997 [GRCh38]
Chr11:128781892 [GRCh37]
Chr11:11q24.3
likely benign|uncertain significance
NM_000890.5(KCNJ5):c.-277G>A single nucleotide variant Familial hyperaldosteronism type III [RCV001107365] Chr11:128891455 [GRCh38]
Chr11:128761350 [GRCh37]
Chr11:11q24.3
benign
NM_000890.5(KCNJ5):c.-307C>G single nucleotide variant Familial hyperaldosteronism type III [RCV001104613] Chr11:128891425 [GRCh38]
Chr11:128761320 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-305C>G single nucleotide variant Familial hyperaldosteronism type III [RCV001104614] Chr11:128891427 [GRCh38]
Chr11:128761322 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-301C>G single nucleotide variant Familial hyperaldosteronism type III [RCV001104616]|not provided [RCV001638038] Chr11:128891431 [GRCh38]
Chr11:128761326 [GRCh37]
Chr11:11q24.3
benign|uncertain significance
NM_000890.5(KCNJ5):c.-297C>G single nucleotide variant Familial hyperaldosteronism type III [RCV001104618]|not provided [RCV001673014] Chr11:128891435 [GRCh38]
Chr11:128761330 [GRCh37]
Chr11:11q24.3
benign|uncertain significance
NM_000890.5(KCNJ5):c.96T>A (p.Tyr32Ter) single nucleotide variant Long QT syndrome [RCV003105133] Chr11:128911369 [GRCh38]
Chr11:128781264 [GRCh37]
Chr11:11q24.3
likely benign
NC_000011.9:g.(?_128564154)_(128786626_?)del deletion not provided [RCV003107578] Chr11:128564154..128786626 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-293_-284del deletion not provided [RCV001720741] Chr11:128891438..128891447 [GRCh38]
Chr11:128761333..128761342 [GRCh37]
Chr11:11q24.3
benign
NM_000890.5(KCNJ5):c.938-164GATG[12] microsatellite not provided [RCV001648771] Chr11:128916244..128916245 [GRCh38]
Chr11:128786139..128786140 [GRCh37]
Chr11:11q24.3
benign
NM_000890.5(KCNJ5):c.366C>T (p.Gly122=) single nucleotide variant Long QT syndrome [RCV002538591]|not provided [RCV001667404] Chr11:128911639 [GRCh38]
Chr11:128781534 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.506T>C (p.Leu169Ser) single nucleotide variant not provided [RCV001557690] Chr11:128911779 [GRCh38]
Chr11:128781674 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.615C>T (p.Asn205=) single nucleotide variant Cardiovascular phenotype [RCV003169182]|Long QT syndrome [RCV000872780] Chr11:128911888 [GRCh38]
Chr11:128781783 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.*1090C>T single nucleotide variant Familial hyperaldosteronism type III [RCV001105964] Chr11:128917821 [GRCh38]
Chr11:128787716 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.748A>T (p.Ile250Phe) single nucleotide variant Long QT syndrome [RCV001237159]|not provided [RCV001760252] Chr11:128912021 [GRCh38]
Chr11:128781916 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.1220A>G (p.Lys407Arg) single nucleotide variant Long QT syndrome 13 [RCV002481920]|Long QT syndrome [RCV001045755] Chr11:128916691 [GRCh38]
Chr11:128786586 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.670C>G (p.Leu224Val) single nucleotide variant not provided [RCV002464753] Chr11:128911943 [GRCh38]
Chr11:128781838 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.938-166_938-165insGG insertion not provided [RCV001641004] Chr11:128916243..128916244 [GRCh38]
Chr11:128786138..128786139 [GRCh37]
Chr11:11q24.3
benign
NM_000890.5(KCNJ5):c.938-164GATG[14] microsatellite not provided [RCV001555026] Chr11:128916244..128916245 [GRCh38]
Chr11:128786139..128786140 [GRCh37]
Chr11:11q24.3
likely benign
GRCh37/hg19 11q24.3(chr11:128682955-128897053)x3 copy number gain not provided [RCV002472672] Chr11:128682955..128897053 [GRCh37]
Chr11:11q24.3
uncertain significance
GRCh37/hg19 11q24.2-25(chr11:124232608-134938470)x1 copy number loss not provided [RCV001006454] Chr11:124232608..134938470 [GRCh37]
Chr11:11q24.2-25
pathogenic
GRCh37/hg19 11q24.3(chr11:128679546-128897053)x3 copy number gain not provided [RCV001006460] Chr11:128679546..128897053 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.455A>G (p.Tyr152Cys) single nucleotide variant Familial hyperaldosteronism type III [RCV001102793] Chr11:128911728 [GRCh38]
Chr11:128781623 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-303C>G single nucleotide variant Familial hyperaldosteronism type III [RCV001104615]|not provided [RCV001673013] Chr11:128891429 [GRCh38]
Chr11:128761324 [GRCh37]
Chr11:11q24.3
benign|uncertain significance
NM_000890.5(KCNJ5):c.-299C>G single nucleotide variant Familial hyperaldosteronism type III [RCV001104617]|not provided [RCV001707863] Chr11:128891433 [GRCh38]
Chr11:128761328 [GRCh37]
Chr11:11q24.3
benign|uncertain significance
NM_000890.5(KCNJ5):c.956G>A (p.Arg319Gln) single nucleotide variant Familial hyperaldosteronism type III [RCV001104712] Chr11:128916427 [GRCh38]
Chr11:128786322 [GRCh37]
Chr11:11q24.3
uncertain significance
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25
likely pathogenic
NM_000890.5(KCNJ5):c.*795G>A single nucleotide variant Familial hyperaldosteronism type III [RCV001102898] Chr11:128917526 [GRCh38]
Chr11:128787421 [GRCh37]
Chr11:11q24.3
benign
NM_000890.5(KCNJ5):c.-145C>T single nucleotide variant Familial hyperaldosteronism type III [RCV001108012] Chr11:128891587 [GRCh38]
Chr11:128761482 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-35G>C single nucleotide variant Familial hyperaldosteronism type III [RCV001108013] Chr11:128891697 [GRCh38]
Chr11:128761592 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.435G>A (p.Glu145=) single nucleotide variant Familial hyperaldosteronism type III [RCV001108014] Chr11:128911708 [GRCh38]
Chr11:128781603 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.*191C>T single nucleotide variant Familial hyperaldosteronism type III [RCV001108120] Chr11:128916922 [GRCh38]
Chr11:128786817 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.*284G>A single nucleotide variant Familial hyperaldosteronism type III [RCV001108121] Chr11:128917015 [GRCh38]
Chr11:128786910 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.476A>G (p.Glu159Gly) single nucleotide variant Familial hyperaldosteronism type III [RCV001102794] Chr11:128911749 [GRCh38]
Chr11:128781644 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.938-164GATG[13] microsatellite not provided [RCV001670728] Chr11:128916244..128916245 [GRCh38]
Chr11:128786139..128786140 [GRCh37]
Chr11:11q24.3
benign
NM_000890.5(KCNJ5):c.-10-81C>T single nucleotide variant not provided [RCV001549306] Chr11:128911183 [GRCh38]
Chr11:128781078 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.938-164GATG[10] microsatellite not provided [RCV001670860] Chr11:128916244..128916245 [GRCh38]
Chr11:128786139..128786140 [GRCh37]
Chr11:11q24.3
benign
NM_000890.5(KCNJ5):c.214C>T (p.Arg72Trp) single nucleotide variant Cardiovascular phenotype [RCV002429897]|Long QT syndrome 13 [RCV002484150]|Long QT syndrome [RCV001211391]|not provided [RCV002224025] Chr11:128911487 [GRCh38]
Chr11:128781382 [GRCh37]
Chr11:11q24.3
likely benign|uncertain significance
NM_000890.5(KCNJ5):c.663G>A (p.Val221=) single nucleotide variant Long QT syndrome [RCV001052070] Chr11:128911936 [GRCh38]
Chr11:128781831 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.687C>G (p.Ile229Met) single nucleotide variant Long QT syndrome [RCV001059060] Chr11:128911960 [GRCh38]
Chr11:128781855 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.*650C>T single nucleotide variant Familial hyperaldosteronism type III [RCV001102897] Chr11:128917381 [GRCh38]
Chr11:128787276 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-291C>G single nucleotide variant Familial hyperaldosteronism type III [RCV001107364]|Long QT syndrome 13 [RCV002489752] Chr11:128891441 [GRCh38]
Chr11:128761336 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-213G>A single nucleotide variant Familial hyperaldosteronism type III [RCV001107366] Chr11:128891519 [GRCh38]
Chr11:128761414 [GRCh37]
Chr11:11q24.3
uncertain significance
GRCh37/hg19 11q24.2-25(chr11:125785487-134938470)x1 copy number loss not provided [RCV001258504] Chr11:125785487..134938470 [GRCh37]
Chr11:11q24.2-25
pathogenic
GRCh37/hg19 11q24.3(chr11:128683017-128897053)x4 copy number gain not provided [RCV001258506] Chr11:128683017..128897053 [GRCh37]
Chr11:11q24.3
uncertain significance
GRCh37/hg19 11q24.2-25(chr11:127602115-134938470)x1 copy number loss not provided [RCV001258505] Chr11:127602115..134938470 [GRCh37]
Chr11:11q24.2-25
pathogenic
NM_000890.5(KCNJ5):c.902T>A (p.Val301Asp) single nucleotide variant Cardiovascular phenotype [RCV002375418]|Long QT syndrome [RCV001319489] Chr11:128912175 [GRCh38]
Chr11:128782070 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.155G>A (p.Arg52His) single nucleotide variant Cardiovascular phenotype [RCV002402850]|Long QT syndrome [RCV001304278] Chr11:128911428 [GRCh38]
Chr11:128781323 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.148C>T (p.Arg50Cys) single nucleotide variant Cardiovascular phenotype [RCV002395664]|Long QT syndrome 13 [RCV002493633]|Long QT syndrome [RCV001312895]|not provided [RCV002224054] Chr11:128911421 [GRCh38]
Chr11:128781316 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.532G>A (p.Val178Ile) single nucleotide variant Long QT syndrome 13 [RCV002486441]|Long QT syndrome [RCV001350128] Chr11:128911805 [GRCh38]
Chr11:128781700 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.994C>T (p.Arg332Ter) single nucleotide variant Long QT syndrome 13 [RCV002504596]|Long QT syndrome [RCV001363248] Chr11:128916465 [GRCh38]
Chr11:128786360 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.1245C>G (p.Ala415=) single nucleotide variant Long QT syndrome [RCV001391833] Chr11:128916716 [GRCh38]
Chr11:128786611 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.351C>T (p.Asp117=) single nucleotide variant Cardiovascular phenotype [RCV002456663]|Long QT syndrome 13 [RCV002493976]|Long QT syndrome [RCV001414358] Chr11:128911624 [GRCh38]
Chr11:128781519 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.1123C>T (p.Arg375Trp) single nucleotide variant Cardiovascular phenotype [RCV002438864]|Long QT syndrome [RCV001369884]|not provided [RCV001664854] Chr11:128916594 [GRCh38]
Chr11:128786489 [GRCh37]
Chr11:11q24.3
likely benign|uncertain significance
NM_000890.5(KCNJ5):c.274G>A (p.Val92Ile) single nucleotide variant Cardiovascular phenotype [RCV002438796]|Long QT syndrome 13 [RCV002486399]|Long QT syndrome [RCV001344724]|not provided [RCV003232322] Chr11:128911547 [GRCh38]
Chr11:128781442 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.1248G>C (p.Arg416Ser) single nucleotide variant Cardiovascular phenotype [RCV002395789]|Long QT syndrome 13 [RCV002504580]|not provided [RCV001357656] Chr11:128916719 [GRCh38]
Chr11:128786614 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.295G>A (p.Val99Ile) single nucleotide variant Long QT syndrome [RCV001298341] Chr11:128911568 [GRCh38]
Chr11:128781463 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.53C>T (p.Thr18Ile) single nucleotide variant Cardiovascular phenotype [RCV002350554]|Long QT syndrome [RCV001305885]|not provided [RCV002245954] Chr11:128911326 [GRCh38]
Chr11:128781221 [GRCh37]
Chr11:11q24.3
benign|likely benign|uncertain significance
NM_000890.5(KCNJ5):c.133G>C (p.Glu45Gln) single nucleotide variant Long QT syndrome [RCV001308888] Chr11:128911406 [GRCh38]
Chr11:128781301 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.520C>A (p.Leu174Met) single nucleotide variant Long QT syndrome [RCV001308904] Chr11:128911793 [GRCh38]
Chr11:128781688 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.631C>T (p.Arg211Trp) single nucleotide variant Cardiovascular phenotype [RCV002368188]|Long QT syndrome 13 [RCV002499752]|Long QT syndrome [RCV001367983] Chr11:128911904 [GRCh38]
Chr11:128781799 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.415G>A (p.Ala139Thr) single nucleotide variant Inborn genetic diseases [RCV002543159]|Long QT syndrome [RCV001306242] Chr11:128911688 [GRCh38]
Chr11:128781583 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.119C>T (p.Thr40Met) single nucleotide variant Long QT syndrome 13 [RCV002504470]|Long QT syndrome [RCV001308690] Chr11:128911392 [GRCh38]
Chr11:128781287 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.618A>G (p.Ala206=) single nucleotide variant Cardiovascular phenotype [RCV003160886]|Long QT syndrome 13 [RCV002495675]|Long QT syndrome [RCV001464338] Chr11:128911891 [GRCh38]
Chr11:128781786 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.937+9C>T single nucleotide variant Long QT syndrome [RCV001412100] Chr11:128912219 [GRCh38]
Chr11:128782114 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.1161G>C (p.Gly387=) single nucleotide variant Long QT syndrome [RCV001426595] Chr11:128916632 [GRCh38]
Chr11:128786527 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.-11+59G>A single nucleotide variant not provided [RCV001541701] Chr11:128891780 [GRCh38]
Chr11:128761675 [GRCh37]
Chr11:11q24.3
benign
NM_000890.5(KCNJ5):c.132C>T (p.Ala44=) single nucleotide variant Cardiovascular phenotype [RCV003160766]|Long QT syndrome [RCV001439976] Chr11:128911405 [GRCh38]
Chr11:128781300 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.198C>T (p.Asn66=) single nucleotide variant Cardiovascular phenotype [RCV002420972]|Long QT syndrome [RCV001431756] Chr11:128911471 [GRCh38]
Chr11:128781366 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.938-164GATG[11] microsatellite not provided [RCV001613999] Chr11:128916244..128916245 [GRCh38]
Chr11:128786139..128786140 [GRCh37]
Chr11:11q24.3
benign
NM_000890.5(KCNJ5):c.414C>T (p.Ser138=) single nucleotide variant Cardiovascular phenotype [RCV003160953]|Long QT syndrome [RCV001482749] Chr11:128911687 [GRCh38]
Chr11:128781582 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.810T>C (p.Leu270=) single nucleotide variant Long QT syndrome 13 [RCV002506537]|Long QT syndrome [RCV001464246] Chr11:128912083 [GRCh38]
Chr11:128781978 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.276C>G (p.Val92=) single nucleotide variant Long QT syndrome [RCV001473470] Chr11:128911549 [GRCh38]
Chr11:128781444 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.204G>A (p.Gln68=) single nucleotide variant Long QT syndrome [RCV001487876] Chr11:128911477 [GRCh38]
Chr11:128781372 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.1155G>T (p.Leu385=) single nucleotide variant Cardiovascular phenotype [RCV002359009]|Long QT syndrome [RCV001453242] Chr11:128916626 [GRCh38]
Chr11:128786521 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.766G>A (p.Asp256Asn) single nucleotide variant not provided [RCV001756411] Chr11:128912039 [GRCh38]
Chr11:128781934 [GRCh37]
Chr11:11q24.3
uncertain significance
NC_000011.9:g.104288964_134937416dup duplication Distal trisomy 11q [RCV001250234] Chr11:104288964..134937416 [GRCh37]
Chr11:11q22.3-25
pathogenic
NM_000890.5(KCNJ5):c.41_46del (p.Glu14_Ile15del) deletion not provided [RCV001756832] Chr11:128911313..128911318 [GRCh38]
Chr11:128781208..128781213 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.1151C>T (p.Pro384Leu) single nucleotide variant not provided [RCV001767120] Chr11:128916622 [GRCh38]
Chr11:128786517 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.704G>A (p.Arg235Gln) single nucleotide variant not provided [RCV001767083] Chr11:128911977 [GRCh38]
Chr11:128781872 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.160A>C (p.Met54Leu) single nucleotide variant not provided [RCV001786053] Chr11:128911433 [GRCh38]
Chr11:128781328 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.*861GTTTT[6] microsatellite not provided [RCV001786155] Chr11:128917591..128917605 [GRCh38]
Chr11:128787486..128787500 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.854C>G (p.Pro285Arg) single nucleotide variant not provided [RCV001765596] Chr11:128912127 [GRCh38]
Chr11:128782022 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.955C>T (p.Arg319Trp) single nucleotide variant Long QT syndrome 13 [RCV002482313]|not provided [RCV001786988] Chr11:128916426 [GRCh38]
Chr11:128786321 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.73A>T (p.Ile25Phe) single nucleotide variant Long QT syndrome [RCV001929410] Chr11:128911346 [GRCh38]
Chr11:128781241 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.670C>T (p.Leu224Phe) single nucleotide variant Long QT syndrome [RCV002044921] Chr11:128911943 [GRCh38]
Chr11:128781838 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.473C>G (p.Thr158Arg) single nucleotide variant Long QT syndrome [RCV001966490] Chr11:128911746 [GRCh38]
Chr11:128781641 [GRCh37]
Chr11:11q24.3
likely pathogenic
NM_000890.5(KCNJ5):c.497T>C (p.Ile166Thr) single nucleotide variant Long QT syndrome [RCV001950078] Chr11:128911770 [GRCh38]
Chr11:128781665 [GRCh37]
Chr11:11q24.3
uncertain significance
NC_000011.9:g.(?_128709020)_(128786626_?)dup duplication not provided [RCV001909703] Chr11:128709020..128786626 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.1074C>A (p.Asn358Lys) single nucleotide variant Long QT syndrome [RCV002004834] Chr11:128916545 [GRCh38]
Chr11:128786440 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.834T>A (p.His278Gln) single nucleotide variant Long QT syndrome [RCV002022870] Chr11:128912107 [GRCh38]
Chr11:128782002 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.1036G>A (p.Val346Met) single nucleotide variant Long QT syndrome [RCV002042811] Chr11:128916507 [GRCh38]
Chr11:128786402 [GRCh37]
Chr11:11q24.3
uncertain significance
GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3 copy number gain not provided [RCV001829187] Chr11:112375478..128785742 [GRCh37]
Chr11:11q23.1-24.3
pathogenic
NM_000890.5(KCNJ5):c.112G>A (p.Asp38Asn) single nucleotide variant Long QT syndrome [RCV002017310] Chr11:128911385 [GRCh38]
Chr11:128781280 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.546G>T (p.Met182Ile) single nucleotide variant Cardiovascular phenotype [RCV002344042]|Long QT syndrome [RCV001930769] Chr11:128911819 [GRCh38]
Chr11:128781714 [GRCh37]
Chr11:11q24.3
uncertain significance
NC_000011.9:g.(?_128781169)_(128786626_?)del deletion Long QT syndrome [RCV001916603] Chr11:128781169..128786626 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.1217C>T (p.Pro406Leu) single nucleotide variant Long QT syndrome [RCV002049550] Chr11:128916688 [GRCh38]
Chr11:128786583 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.-293GA[5] microsatellite not provided [RCV002049736] Chr11:128891437..128891438 [GRCh38]
Chr11:128761332..128761333 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.224G>A (p.Ser75Asn) single nucleotide variant Cardiovascular phenotype [RCV002425364]|Long QT syndrome 13 [RCV002492205]|Long QT syndrome [RCV002014860] Chr11:128911497 [GRCh38]
Chr11:128781392 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.163G>A (p.Glu55Lys) single nucleotide variant Cardiovascular phenotype [RCV002389038]|Long QT syndrome [RCV002029540]|not provided [RCV003232516] Chr11:128911436 [GRCh38]
Chr11:128781331 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.1153dup (p.Leu385fs) duplication Long QT syndrome [RCV001937962] Chr11:128916623..128916624 [GRCh38]
Chr11:128786518..128786519 [GRCh37]
Chr11:11q24.3
uncertain significance
NC_000011.9:g.(?_128781169)_(128786626_?)dup duplication Long QT syndrome [RCV001875136] Chr11:128781169..128786626 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.149G>A (p.Arg50His) single nucleotide variant Cardiovascular phenotype [RCV002389009]|Familial hyperaldosteronism type III [RCV003147732]|Long QT syndrome 13 [RCV002507769]|Long QT syndrome [RCV002028621] Chr11:128911422 [GRCh38]
Chr11:128781317 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.60_61del (p.Trp20_Asp21delinsTer) deletion Cardiovascular phenotype [RCV002352666]|Long QT syndrome [RCV001997949] Chr11:128911332..128911333 [GRCh38]
Chr11:128781227..128781228 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.475G>T (p.Glu159Ter) single nucleotide variant Long QT syndrome [RCV001981518] Chr11:128911748 [GRCh38]
Chr11:128781643 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.590C>T (p.Ala197Val) single nucleotide variant Cardiovascular phenotype [RCV003303471]|Long QT syndrome [RCV001955706] Chr11:128911863 [GRCh38]
Chr11:128781758 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.666C>T (p.Gly222=) single nucleotide variant Long QT syndrome [RCV001899065] Chr11:128911939 [GRCh38]
Chr11:128781834 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.141G>C (p.Lys47Asn) single nucleotide variant Long QT syndrome [RCV002047425] Chr11:128911414 [GRCh38]
Chr11:128781309 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.259C>T (p.Arg87Cys) single nucleotide variant Cardiovascular phenotype [RCV002425196]|Long QT syndrome 13 [RCV002503522]|Long QT syndrome [RCV001903185]|not provided [RCV002224108] Chr11:128911532 [GRCh38]
Chr11:128781427 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.439G>C (p.Glu147Gln) single nucleotide variant Long QT syndrome [RCV001900173] Chr11:128911712 [GRCh38]
Chr11:128781607 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.835G>A (p.Glu279Lys) single nucleotide variant Long QT syndrome 13 [RCV002487016]|not provided [RCV002224310] Chr11:128912108 [GRCh38]
Chr11:128782003 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.687C>T (p.Ile229=) single nucleotide variant Long QT syndrome [RCV002189181] Chr11:128911960 [GRCh38]
Chr11:128781855 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.149G>C (p.Arg50Pro) single nucleotide variant not provided [RCV002223471] Chr11:128911422 [GRCh38]
Chr11:128781317 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.219C>A (p.Tyr73Ter) single nucleotide variant not provided [RCV002224543] Chr11:128911492 [GRCh38]
Chr11:128781387 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.732C>T (p.Thr244=) single nucleotide variant Cardiovascular phenotype [RCV002382387]|Long QT syndrome [RCV002074511] Chr11:128912005 [GRCh38]
Chr11:128781900 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.416C>A (p.Ala139Asp) single nucleotide variant not provided [RCV002224259] Chr11:128911689 [GRCh38]
Chr11:128781584 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.944C>A (p.Thr315Asn) single nucleotide variant not provided [RCV002224513] Chr11:128916415 [GRCh38]
Chr11:128786310 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.880C>T (p.Leu294=) single nucleotide variant Long QT syndrome [RCV002188320] Chr11:128912153 [GRCh38]
Chr11:128782048 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.183C>T (p.Asn61=) single nucleotide variant Cardiovascular phenotype [RCV002409605]|Long QT syndrome [RCV002190838] Chr11:128911456 [GRCh38]
Chr11:128781351 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.1230T>G (p.Gly410=) single nucleotide variant Cardiovascular phenotype [RCV003382833]|Long QT syndrome [RCV002094752] Chr11:128916701 [GRCh38]
Chr11:128786596 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.597C>T (p.Thr199=) single nucleotide variant Long QT syndrome [RCV002197106] Chr11:128911870 [GRCh38]
Chr11:128781765 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.447C>T (p.Thr149=) single nucleotide variant Long QT syndrome [RCV002203357] Chr11:128911720 [GRCh38]
Chr11:128781615 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.1071C>T (p.Thr357=) single nucleotide variant Long QT syndrome [RCV002155115] Chr11:128916542 [GRCh38]
Chr11:128786437 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.938-4C>T single nucleotide variant Cardiovascular phenotype [RCV002372972]|Long QT syndrome [RCV002099112] Chr11:128916405 [GRCh38]
Chr11:128786300 [GRCh37]
Chr11:11q24.3
likely benign|uncertain significance
NM_000890.5(KCNJ5):c.938-11_938-10delinsTA indel Long QT syndrome 13 [RCV002494064]|Long QT syndrome [RCV002182877] Chr11:128916398..128916399 [GRCh38]
Chr11:128786293..128786294 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.120G>A (p.Thr40=) single nucleotide variant Long QT syndrome [RCV002219246] Chr11:128911393 [GRCh38]
Chr11:128781288 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.906G>T (p.Val302=) single nucleotide variant Cardiovascular phenotype [RCV002372916]|Long QT syndrome 13 [RCV002499938]|Long QT syndrome [RCV002103550] Chr11:128912179 [GRCh38]
Chr11:128782074 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.938-13T>G single nucleotide variant Long QT syndrome [RCV002177995] Chr11:128916396 [GRCh38]
Chr11:128786291 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.96T>C (p.Tyr32=) single nucleotide variant Cardiovascular phenotype [RCV002372879]|Long QT syndrome [RCV002083051] Chr11:128911369 [GRCh38]
Chr11:128781264 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.445A>G (p.Thr149Ala) single nucleotide variant Long QT syndrome [RCV003111817] Chr11:128911718 [GRCh38]
Chr11:128781613 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.343C>T (p.Arg115Trp) single nucleotide variant Long QT syndrome [RCV003115905] Chr11:128911616 [GRCh38]
Chr11:128781511 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.144G>A (p.Lys48=) single nucleotide variant Long QT syndrome [RCV003121473] Chr11:128911417 [GRCh38]
Chr11:128781312 [GRCh37]
Chr11:11q24.3
benign
NM_000890.5(KCNJ5):c.1163dup (p.Cys389fs) duplication See cases [RCV002252472] Chr11:128916628..128916629 [GRCh38]
Chr11:128786523..128786524 [GRCh37]
Chr11:11q24.3
uncertain significance
GRCh37/hg19 11q23.3-25(chr11:120531028-134257553) copy number loss 11q partial monosomy syndrome [RCV003236728] Chr11:120531028..134257553 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_000890.5(KCNJ5):c.283A>T (p.Met95Leu) single nucleotide variant Cardiovascular phenotype [RCV002435222] Chr11:128911556 [GRCh38]
Chr11:128781451 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.741G>C (p.Gly247=) single nucleotide variant Cardiovascular phenotype [RCV002384983]|Long QT syndrome [RCV003103397] Chr11:128912014 [GRCh38]
Chr11:128781909 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.1152A>C (p.Pro384=) single nucleotide variant Cardiovascular phenotype [RCV002349086] Chr11:128916623 [GRCh38]
Chr11:128786518 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.799C>T (p.Arg267Cys) single nucleotide variant Cardiovascular phenotype [RCV002419118] Chr11:128912072 [GRCh38]
Chr11:128781967 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.691G>A (p.Glu231Lys) single nucleotide variant Long QT syndrome [RCV002297058] Chr11:128911964 [GRCh38]
Chr11:128781859 [GRCh37]
Chr11:11q24.3
uncertain significance
GRCh37/hg19 11q24.2-25(chr11:127075189-134945120)x1 copy number loss Syndromic anorectal malformation [RCV002286600] Chr11:127075189..134945120 [GRCh37]
Chr11:11q24.2-25
likely pathogenic
NM_000890.5(KCNJ5):c.621C>T (p.Val207=) single nucleotide variant Cardiovascular phenotype [RCV002366507] Chr11:128911894 [GRCh38]
Chr11:128781789 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.811G>A (p.Val271Met) single nucleotide variant Cardiovascular phenotype [RCV002421282] Chr11:128912084 [GRCh38]
Chr11:128781979 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.110C>T (p.Thr37Ile) single nucleotide variant Cardiovascular phenotype [RCV002453164] Chr11:128911383 [GRCh38]
Chr11:128781278 [GRCh37]
Chr11:11q24.3
uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25
pathogenic
GRCh37/hg19 11q24.3-25(chr11:128634685-134257741)x1 copy number loss not provided [RCV002262373] Chr11:128634685..134257741 [GRCh37]
Chr11:11q24.3-25
pathogenic
NM_000890.5(KCNJ5):c.666C>A (p.Gly222=) single nucleotide variant Cardiovascular phenotype [RCV002366932] Chr11:128911939 [GRCh38]
Chr11:128781834 [GRCh37]
Chr11:11q24.3
benign|likely benign
NM_000890.5(KCNJ5):c.637G>A (p.Glu213Lys) single nucleotide variant Cardiovascular phenotype [RCV002369117] Chr11:128911910 [GRCh38]
Chr11:128781805 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.1237A>C (p.Arg413=) single nucleotide variant Cardiovascular phenotype [RCV002367316]|Long QT syndrome [RCV003098471] Chr11:128916708 [GRCh38]
Chr11:128786603 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.1227G>C (p.Leu409=) single nucleotide variant Cardiovascular phenotype [RCV002366767]|Long QT syndrome [RCV003098316] Chr11:128916698 [GRCh38]
Chr11:128786593 [GRCh37]
Chr11:11q24.3
likely benign|uncertain significance
NM_000890.5(KCNJ5):c.638A>G (p.Glu213Gly) single nucleotide variant Cardiovascular phenotype [RCV002369136] Chr11:128911911 [GRCh38]
Chr11:128781806 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.240C>G (p.Thr80=) single nucleotide variant Cardiovascular phenotype [RCV003306258] Chr11:128911513 [GRCh38]
Chr11:128781408 [GRCh37]
Chr11:11q24.3
likely benign
GRCh37/hg19 11q24.3(chr11:128683018-128897053)x3 copy number gain not provided [RCV002473755] Chr11:128683018..128897053 [GRCh37]
Chr11:11q24.3
uncertain significance
GRCh37/hg19 11q24.3(chr11:128683208-128897053)x3 copy number gain not provided [RCV002474942] Chr11:128683208..128897053 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.1253C>G (p.Ser418Trp) single nucleotide variant Cardiovascular phenotype [RCV002416747] Chr11:128916724 [GRCh38]
Chr11:128786619 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.1253C>T (p.Ser418Leu) single nucleotide variant Cardiovascular phenotype [RCV002416758]|Long QT syndrome [RCV003103455] Chr11:128916724 [GRCh38]
Chr11:128786619 [GRCh37]
Chr11:11q24.3
uncertain significance
GRCh37/hg19 11q24.1-25(chr11:122975824-134938470)x1 copy number loss not provided [RCV002474497] Chr11:122975824..134938470 [GRCh37]
Chr11:11q24.1-25
pathogenic
NM_000890.5(KCNJ5):c.1198C>A (p.Gln400Lys) single nucleotide variant Cardiovascular phenotype [RCV002344391]|Long QT syndrome [RCV003102713] Chr11:128916669 [GRCh38]
Chr11:128786564 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.331A>G (p.Ile111Val) single nucleotide variant Cardiovascular phenotype [RCV002326363] Chr11:128911604 [GRCh38]
Chr11:128781499 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.487G>A (p.Glu163Lys) single nucleotide variant Cardiovascular phenotype [RCV002340465] Chr11:128911760 [GRCh38]
Chr11:128781655 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.844C>A (p.Gln282Lys) single nucleotide variant Cardiovascular phenotype [RCV002447529] Chr11:128912117 [GRCh38]
Chr11:128782012 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.750C>G (p.Ile250Met) single nucleotide variant Cardiovascular phenotype [RCV002393748] Chr11:128912023 [GRCh38]
Chr11:128781918 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.995G>A (p.Arg332Gln) single nucleotide variant Cardiovascular phenotype [RCV002382945] Chr11:128916466 [GRCh38]
Chr11:128786361 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.297C>T (p.Val99=) single nucleotide variant Cardiovascular phenotype [RCV002442191]|Long QT syndrome [RCV003102940] Chr11:128911570 [GRCh38]
Chr11:128781465 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.840C>T (p.Ile280=) single nucleotide variant Cardiovascular phenotype [RCV002445856] Chr11:128912113 [GRCh38]
Chr11:128782008 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.774C>T (p.Asn258=) single nucleotide variant Cardiovascular phenotype [RCV002409665]|Long QT syndrome [RCV003099735] Chr11:128912047 [GRCh38]
Chr11:128781942 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.68A>G (p.Lys23Arg) single nucleotide variant Cardiovascular phenotype [RCV002362313] Chr11:128911341 [GRCh38]
Chr11:128781236 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.89G>A (p.Arg30His) single nucleotide variant Cardiovascular phenotype [RCV002376329] Chr11:128911362 [GRCh38]
Chr11:128781257 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.172G>A (p.Gly58Ser) single nucleotide variant Cardiovascular phenotype [RCV002399171] Chr11:128911445 [GRCh38]
Chr11:128781340 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.837G>C (p.Glu279Asp) single nucleotide variant Cardiovascular phenotype [RCV002434816] Chr11:128912110 [GRCh38]
Chr11:128782005 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.592G>A (p.Glu198Lys) single nucleotide variant Long QT syndrome [RCV002300509] Chr11:128911865 [GRCh38]
Chr11:128781760 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.116G>A (p.Arg39His) single nucleotide variant Cardiovascular phenotype [RCV002329981] Chr11:128911389 [GRCh38]
Chr11:128781284 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.1098G>A (p.Glu366=) single nucleotide variant Cardiovascular phenotype [RCV002460000] Chr11:128916569 [GRCh38]
Chr11:128786464 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.727C>T (p.Gln243Ter) single nucleotide variant Cardiovascular phenotype [RCV002382632] Chr11:128912000 [GRCh38]
Chr11:128781895 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.456T>C (p.Tyr152=) single nucleotide variant Cardiovascular phenotype [RCV002342128] Chr11:128911729 [GRCh38]
Chr11:128781624 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.342C>G (p.Ile114Met) single nucleotide variant Cardiovascular phenotype [RCV002457004] Chr11:128911615 [GRCh38]
Chr11:128781510 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.905T>C (p.Val302Ala) single nucleotide variant Cardiovascular phenotype [RCV002449951] Chr11:128912178 [GRCh38]
Chr11:128782073 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.336T>C (p.Ala112=) single nucleotide variant Cardiovascular phenotype [RCV002451736] Chr11:128911609 [GRCh38]
Chr11:128781504 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.459C>T (p.Gly153=) single nucleotide variant Cardiovascular phenotype [RCV002342328] Chr11:128911732 [GRCh38]
Chr11:128781627 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.937+4del deletion Cardiovascular phenotype [RCV002450107]|Long QT syndrome [RCV003094795] Chr11:128912213 [GRCh38]
Chr11:128782108 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.789G>A (p.Thr263=) single nucleotide variant Cardiovascular phenotype [RCV002412356] Chr11:128912062 [GRCh38]
Chr11:128781957 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.115C>T (p.Arg39Cys) single nucleotide variant Cardiovascular phenotype [RCV002373236] Chr11:128911388 [GRCh38]
Chr11:128781283 [GRCh37]
Chr11:11q24.3
likely benign|uncertain significance
NM_000890.5(KCNJ5):c.56C>T (p.Pro19Leu) single nucleotide variant Cardiovascular phenotype [RCV002347551] Chr11:128911329 [GRCh38]
Chr11:128781224 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.18G>T (p.Arg6Ser) single nucleotide variant Cardiovascular phenotype [RCV002408241] Chr11:128911291 [GRCh38]
Chr11:128781186 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.768C>T (p.Asp256=) single nucleotide variant Cardiovascular phenotype [RCV002400519] Chr11:128912041 [GRCh38]
Chr11:128781936 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.67A>G (p.Lys23Glu) single nucleotide variant Cardiovascular phenotype [RCV002369469] Chr11:128911340 [GRCh38]
Chr11:128781235 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.681C>T (p.Ser227=) single nucleotide variant Cardiovascular phenotype [RCV002369581] Chr11:128911954 [GRCh38]
Chr11:128781849 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.483T>G (p.Cys161Trp) single nucleotide variant Cardiovascular phenotype [RCV002338139] Chr11:128911756 [GRCh38]
Chr11:128781651 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.501C>G (p.Leu167=) single nucleotide variant Cardiovascular phenotype [RCV002343137] Chr11:128911774 [GRCh38]
Chr11:128781669 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.775G>A (p.Val259Met) single nucleotide variant Cardiovascular phenotype [RCV002409707] Chr11:128912048 [GRCh38]
Chr11:128781943 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.1140C>T (p.Leu380=) single nucleotide variant Cardiovascular phenotype [RCV002460191] Chr11:128916611 [GRCh38]
Chr11:128786506 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.1047C>G (p.Asn349Lys) single nucleotide variant Cardiovascular phenotype [RCV002392652] Chr11:128916518 [GRCh38]
Chr11:128786413 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.615C>G (p.Asn205Lys) single nucleotide variant Cardiovascular phenotype [RCV002353631] Chr11:128911888 [GRCh38]
Chr11:128781783 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.1151dup (p.Leu385fs) duplication Long QT syndrome [RCV003017677] Chr11:128916616..128916617 [GRCh38]
Chr11:128786511..128786512 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.1030T>C (p.Tyr344His) single nucleotide variant Long QT syndrome [RCV003035187] Chr11:128916501 [GRCh38]
Chr11:128786396 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.834_835inv (p.Glu279Lys) inversion Long QT syndrome [RCV002994721] Chr11:128912107..128912108 [GRCh38]
Chr11:128782002..128782003 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.55C>T (p.Pro19Ser) single nucleotide variant Inborn genetic diseases [RCV002729188] Chr11:128911328 [GRCh38]
Chr11:128781223 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.628A>T (p.Met210Leu) single nucleotide variant Long QT syndrome [RCV002926773] Chr11:128911901 [GRCh38]
Chr11:128781796 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.246G>A (p.Val82=) single nucleotide variant Long QT syndrome [RCV002848263] Chr11:128911519 [GRCh38]
Chr11:128781414 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.313G>A (p.Gly105Ser) single nucleotide variant Long QT syndrome [RCV002800174] Chr11:128911586 [GRCh38]
Chr11:128781481 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.741G>A (p.Gly247=) single nucleotide variant Cardiovascular phenotype [RCV003308385]|Long QT syndrome [RCV002949592] Chr11:128912014 [GRCh38]
Chr11:128781909 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.352C>A (p.Leu118Met) single nucleotide variant Long QT syndrome [RCV003008019] Chr11:128911625 [GRCh38]
Chr11:128781520 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.1248G>A (p.Arg416=) single nucleotide variant Long QT syndrome [RCV003025935] Chr11:128916719 [GRCh38]
Chr11:128786614 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.554G>C (p.Cys185Ser) single nucleotide variant Long QT syndrome [RCV003085202] Chr11:128911827 [GRCh38]
Chr11:128781722 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.123C>T (p.Arg41=) single nucleotide variant Long QT syndrome [RCV002648013] Chr11:128911396 [GRCh38]
Chr11:128781291 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.1026C>T (p.Gly342=) single nucleotide variant Long QT syndrome [RCV003027368] Chr11:128916497 [GRCh38]
Chr11:128786392 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.1133A>G (p.Gln378Arg) single nucleotide variant Long QT syndrome [RCV003060217] Chr11:128916604 [GRCh38]
Chr11:128786499 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.9C>T (p.Gly3=) single nucleotide variant Long QT syndrome [RCV002806606] Chr11:128911282 [GRCh38]
Chr11:128781177 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.61G>C (p.Asp21His) single nucleotide variant Long QT syndrome [RCV002675956]|not provided [RCV003229095] Chr11:128911334 [GRCh38]
Chr11:128781229 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.1194T>C (p.Ala398=) single nucleotide variant Long QT syndrome [RCV003051148] Chr11:128916665 [GRCh38]
Chr11:128786560 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.193G>A (p.Gly65Ser) single nucleotide variant Long QT syndrome [RCV003071384] Chr11:128911466 [GRCh38]
Chr11:128781361 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.829T>G (p.Ser277Ala) single nucleotide variant Long QT syndrome [RCV003052010] Chr11:128912102 [GRCh38]
Chr11:128781997 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.796G>A (p.Asp266Asn) single nucleotide variant Long QT syndrome [RCV003073350] Chr11:128912069 [GRCh38]
Chr11:128781964 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.299C>A (p.Thr100Asn) single nucleotide variant Cardiovascular phenotype [RCV003171912] Chr11:128911572 [GRCh38]
Chr11:128781467 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.87C>T (p.Ala29=) single nucleotide variant Cardiovascular phenotype [RCV003186862] Chr11:128911360 [GRCh38]
Chr11:128781255 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.631C>A (p.Arg211=) single nucleotide variant Cardiovascular phenotype [RCV003186864] Chr11:128911904 [GRCh38]
Chr11:128781799 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.437C>A (p.Thr146Asn) single nucleotide variant Cardiovascular phenotype [RCV003186865] Chr11:128911710 [GRCh38]
Chr11:128781605 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.1206AGA[1] (p.Glu403del) microsatellite Cardiovascular phenotype [RCV003186866] Chr11:128916675..128916677 [GRCh38]
Chr11:128786570..128786572 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.1218C>T (p.Pro406=) single nucleotide variant Cardiovascular phenotype [RCV003186868] Chr11:128916689 [GRCh38]
Chr11:128786584 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.1096G>C (p.Glu366Gln) single nucleotide variant Cardiovascular phenotype [RCV003186869] Chr11:128916567 [GRCh38]
Chr11:128786462 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.867G>A (p.Met289Ile) single nucleotide variant Cardiovascular phenotype [RCV003213680] Chr11:128912140 [GRCh38]
Chr11:128782035 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.949C>T (p.Gln317Ter) single nucleotide variant Cardiovascular phenotype [RCV003213679] Chr11:128916420 [GRCh38]
Chr11:128786315 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.554G>A (p.Cys185Tyr) single nucleotide variant Cardiovascular phenotype [RCV003186863] Chr11:128911827 [GRCh38]
Chr11:128781722 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.558G>A (p.Met186Ile) single nucleotide variant Cardiovascular phenotype [RCV003186870] Chr11:128911831 [GRCh38]
Chr11:128781726 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.978_979insC (p.Val327fs) insertion not provided [RCV003133799] Chr11:128916449..128916450 [GRCh38]
Chr11:128786344..128786345 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.646T>C (p.Cys216Arg) single nucleotide variant not provided [RCV003321122] Chr11:128911919 [GRCh38]
Chr11:128781814 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.632G>T (p.Arg211Leu) single nucleotide variant Cardiovascular phenotype [RCV003306257] Chr11:128911905 [GRCh38]
Chr11:128781800 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.303G>T (p.Trp101Cys) single nucleotide variant not provided [RCV003322209] Chr11:128911576 [GRCh38]
Chr11:128781471 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.900A>G (p.Glu300=) single nucleotide variant Cardiovascular phenotype [RCV003387347] Chr11:128912173 [GRCh38]
Chr11:128782068 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.1067A>C (p.Glu356Ala) single nucleotide variant Cardiovascular phenotype [RCV003387348] Chr11:128916538 [GRCh38]
Chr11:128786433 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.365G>A (p.Gly122Asp) single nucleotide variant Cardiovascular phenotype [RCV003387349] Chr11:128911638 [GRCh38]
Chr11:128781533 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.771C>T (p.Ile257=) single nucleotide variant Cardiovascular phenotype [RCV003377503] Chr11:128912044 [GRCh38]
Chr11:128781939 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.1145G>T (p.Ser382Ile) single nucleotide variant not provided [RCV003482041] Chr11:128916616 [GRCh38]
Chr11:128786511 [GRCh37]
Chr11:11q24.3
uncertain significance
Single allele duplication not provided [RCV003448710] Chr11:102134973..134945611 [GRCh37]
Chr11:11q22.2-25
pathogenic
GRCh37/hg19 11q24.3(chr11:128577471-128867773)x3 copy number gain not provided [RCV003484855] Chr11:128577471..128867773 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.737_738del (p.Glu246fs) microsatellite Long QT syndrome [RCV003648233] Chr11:128912008..128912009 [GRCh38]
Chr11:128781903..128781904 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.849G>A (p.Lys283=) single nucleotide variant Long QT syndrome [RCV003849093] Chr11:128912122 [GRCh38]
Chr11:128782017 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.409G>A (p.Val137Met) single nucleotide variant Long QT syndrome [RCV003648914] Chr11:128911682 [GRCh38]
Chr11:128781577 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.857T>C (p.Phe286Ser) single nucleotide variant Long QT syndrome [RCV003647738] Chr11:128912130 [GRCh38]
Chr11:128782025 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.673C>T (p.Arg225Cys) single nucleotide variant Long QT syndrome [RCV003648811] Chr11:128911946 [GRCh38]
Chr11:128781841 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.938-20T>C single nucleotide variant Long QT syndrome [RCV003648852] Chr11:128916389 [GRCh38]
Chr11:128786284 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.50T>A (p.Val17Asp) single nucleotide variant Long QT syndrome [RCV003648976] Chr11:128911323 [GRCh38]
Chr11:128781218 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.701T>C (p.Ile234Thr) single nucleotide variant Long QT syndrome [RCV003648848] Chr11:128911974 [GRCh38]
Chr11:128781869 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.1200G>A (p.Gln400=) single nucleotide variant Long QT syndrome [RCV003648235] Chr11:128916671 [GRCh38]
Chr11:128786566 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.937G>A (p.Gly313Ser) single nucleotide variant Long QT syndrome [RCV003648445] Chr11:128912210 [GRCh38]
Chr11:128782105 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.925G>A (p.Val309Met) single nucleotide variant Long QT syndrome [RCV003649146] Chr11:128912198 [GRCh38]
Chr11:128782093 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.636C>T (p.Asp212=) single nucleotide variant Long QT syndrome [RCV003825512] Chr11:128911909 [GRCh38]
Chr11:128781804 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.1231G>A (p.Gly411Arg) single nucleotide variant Long QT syndrome [RCV003649075] Chr11:128916702 [GRCh38]
Chr11:128786597 [GRCh37]
Chr11:11q24.3
benign
NM_000890.5(KCNJ5):c.813G>T (p.Val271=) single nucleotide variant Long QT syndrome [RCV003648573] Chr11:128912086 [GRCh38]
Chr11:128781981 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.411G>A (p.Val137=) single nucleotide variant Long QT syndrome [RCV003647415] Chr11:128911684 [GRCh38]
Chr11:128781579 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.966C>T (p.Tyr322=) single nucleotide variant Long QT syndrome [RCV003648649] Chr11:128916437 [GRCh38]
Chr11:128786332 [GRCh37]
Chr11:11q24.3
likely benign
NM_000890.5(KCNJ5):c.449T>G (p.Ile150Ser) single nucleotide variant Long QT syndrome [RCV003648142] Chr11:128911722 [GRCh38]
Chr11:128781617 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.659G>A (p.Arg220Gln) single nucleotide variant Long QT syndrome [RCV003648552] Chr11:128911932 [GRCh38]
Chr11:128781827 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.328C>T (p.Leu110Phe) single nucleotide variant Long QT syndrome [RCV003534102] Chr11:128911601 [GRCh38]
Chr11:128781496 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.751C>T (p.Pro251Ser) single nucleotide variant Long QT syndrome [RCV003534144] Chr11:128912024 [GRCh38]
Chr11:128781919 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.361G>A (p.Val121Ile) single nucleotide variant Long QT syndrome [RCV003851341] Chr11:128911634 [GRCh38]
Chr11:128781529 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.519C>G (p.Ile173Met) single nucleotide variant Long QT syndrome [RCV003531542] Chr11:128911792 [GRCh38]
Chr11:128781687 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.830C>T (p.Ser277Phe) single nucleotide variant Long QT syndrome [RCV003531668] Chr11:128912103 [GRCh38]
Chr11:128781998 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.1148C>T (p.Pro383Leu) single nucleotide variant Long QT syndrome [RCV003531694] Chr11:128916619 [GRCh38]
Chr11:128786514 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.1180C>A (p.Leu394Met) single nucleotide variant Long QT syndrome [RCV003534192] Chr11:128916651 [GRCh38]
Chr11:128786546 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.1162G>A (p.Gly388Ser) single nucleotide variant Long QT syndrome [RCV003531714] Chr11:128916633 [GRCh38]
Chr11:128786528 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.1151del (p.Pro384fs) deletion Long QT syndrome [RCV003531588] Chr11:128916617 [GRCh38]
Chr11:128786512 [GRCh37]
Chr11:11q24.3
uncertain significance
NM_000890.5(KCNJ5):c.810T>A (p.Leu270=) single nucleotide variant Long QT syndrome [RCV003534007] Chr11:128912083 [GRCh38]
Chr11:128781978 [GRCh37]
Chr11:11q24.3
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3049
Count of miRNA genes:1073
Interacting mature miRNAs:1337
Transcripts:ENST00000338350, ENST00000529694, ENST00000533599
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.

Markers in Region
D11S4150  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711128,761,234 - 128,761,477UniSTSGRCh37
Build 3611128,266,444 - 128,266,687RGDNCBI36
Celera11125,929,550 - 125,929,789RGD
Cytogenetic Map11q24UniSTS
HuRef11124,711,062 - 124,711,301UniSTS
Marshfield Genetic Map11132.95RGD
Marshfield Genetic Map11132.95UniSTS
Genethon Genetic Map11138.5UniSTS
RH18049  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711128,786,631 - 128,786,758UniSTSGRCh37
Build 3611128,291,841 - 128,291,968RGDNCBI36
Celera11125,954,938 - 125,955,065RGD
Cytogenetic Map11q24UniSTS
HuRef11124,736,463 - 124,736,590UniSTS
GeneMap99-GB4 RH Map11424.26UniSTS
SHGC-152477  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711128,761,226 - 128,761,345UniSTSGRCh37
Build 3611128,266,436 - 128,266,555RGDNCBI36
Celera11125,929,542 - 125,929,649RGD
Cytogenetic Map11q24UniSTS
HuRef11124,711,054 - 124,711,161UniSTS
TNG Radiation Hybrid Map841909.0UniSTS
KCNJ5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711128,781,360 - 128,781,582UniSTSGRCh37
Build 3611128,286,570 - 128,286,792RGDNCBI36
Celera11125,949,673 - 125,949,895RGD
Cytogenetic Map11q24UniSTS
HuRef11124,731,187 - 124,731,409UniSTS
GeneMap99-GB4 RH Map11421.63UniSTS
NCBI RH Map111080.8UniSTS
RH79150  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711128,786,649 - 128,786,818UniSTSGRCh37
Build 3611128,291,859 - 128,292,028RGDNCBI36
Celera11125,954,956 - 125,955,125RGD
Cytogenetic Map11q24UniSTS
HuRef11124,736,481 - 124,736,650UniSTS
GeneMap99-GB4 RH Map11424.26UniSTS
L18426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map12q24.1-q24.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p24.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map20p11.21UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map9p21.1UniSTS
D5S1597E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map6q16.2UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
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Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


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 4 122 511 1 118 1 5 9 259 42 52 38 4 1 1
Low 1629 1263 661 269 344 128 1598 996 1482 254 939 1143 145 1 910 821 2
Below cutoff 787 1403 516 316 970 299 2712 1156 1975 122 461 422 28 290 1934 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB690268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D50134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN859132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN859133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L47208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC740579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK599271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U39195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X83582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000338350   ⟹   ENSP00000339960
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11128,891,469 - 128,916,853 (+)Ensembl
RefSeq Acc Id: ENST00000529694   ⟹   ENSP00000433295
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11128,891,356 - 128,921,163 (+)Ensembl
RefSeq Acc Id: ENST00000533599   ⟹   ENSP00000434266
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11128,911,184 - 128,916,731 (+)Ensembl
RefSeq Acc Id: NM_000890   ⟹   NP_000881
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811128,891,356 - 128,921,163 (+)NCBI
GRCh3711128,761,313 - 128,791,060 (+)NCBI
Build 3611128,266,523 - 128,293,174 (+)NCBI Archive
HuRef11124,711,137 - 124,737,786 (+)ENTREZGENE
CHM1_111128,647,771 - 128,674,425 (+)NCBI
T2T-CHM13v2.011128,926,287 - 128,956,088 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354169   ⟹   NP_001341098
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811128,891,356 - 128,921,163 (+)NCBI
T2T-CHM13v2.011128,926,287 - 128,956,088 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011542810   ⟹   XP_011541112
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811128,905,338 - 128,921,163 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054368729   ⟹   XP_054224704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011128,940,271 - 128,956,088 (+)NCBI
RefSeq Acc Id: NP_000881   ⟸   NM_000890
- UniProtKB: Q6DK14 (UniProtKB/Swiss-Prot),   Q6DK13 (UniProtKB/Swiss-Prot),   B2R744 (UniProtKB/Swiss-Prot),   Q92807 (UniProtKB/Swiss-Prot),   P48544 (UniProtKB/Swiss-Prot),   A0A5J6E2W8 (UniProtKB/TrEMBL),   H7CGH0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011541112   ⟸   XM_011542810
- Peptide Label: isoform X1
- UniProtKB: Q6DK14 (UniProtKB/Swiss-Prot),   Q6DK13 (UniProtKB/Swiss-Prot),   B2R744 (UniProtKB/Swiss-Prot),   Q92807 (UniProtKB/Swiss-Prot),   P48544 (UniProtKB/Swiss-Prot),   A0A5J6E2W8 (UniProtKB/TrEMBL),   H7CGH0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341098   ⟸   NM_001354169
- UniProtKB: Q6DK14 (UniProtKB/Swiss-Prot),   Q6DK13 (UniProtKB/Swiss-Prot),   P48544 (UniProtKB/Swiss-Prot),   B2R744 (UniProtKB/Swiss-Prot),   Q92807 (UniProtKB/Swiss-Prot),   A0A5J6E2W8 (UniProtKB/TrEMBL),   H7CGH0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000434266   ⟸   ENST00000533599
RefSeq Acc Id: ENSP00000339960   ⟸   ENST00000338350
RefSeq Acc Id: ENSP00000433295   ⟸   ENST00000529694
RefSeq Acc Id: XP_054224704   ⟸   XM_054368729
- Peptide Label: isoform X1
- UniProtKB: H7CGH0 (UniProtKB/TrEMBL)
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P48544-F1-model_v2 AlphaFold P48544 1-419 view protein structure

Promoters
RGD ID:7222613
Promoter ID:EPDNEW_H17053
Type:initiation region
Name:KCNJ5_1
Description:potassium voltage-gated channel subfamily J member 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17054  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811128,891,356 - 128,891,416EPDNEW
RGD ID:7222619
Promoter ID:EPDNEW_H17054
Type:initiation region
Name:KCNJ5_2
Description:potassium voltage-gated channel subfamily J member 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17053  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811128,891,479 - 128,891,539EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6266 AgrOrtholog
COSMIC KCNJ5 COSMIC
Ensembl Genes ENSG00000120457 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000338350 ENTREZGENE
  ENST00000338350.4 UniProtKB/Swiss-Prot
  ENST00000529694 ENTREZGENE
  ENST00000529694.6 UniProtKB/Swiss-Prot
  ENST00000533599.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.287.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.1400 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000120457 GTEx
HGNC ID HGNC:6266 ENTREZGENE
Human Proteome Map KCNJ5 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_Kir3.4 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:3762 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3762 ENTREZGENE
OMIM 600734 OMIM
PANTHER G PROTEIN-ACTIVATED INWARD RECTIFIER POTASSIUM CHANNEL 4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11767 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam IRK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IRK_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB KCNJ5 RGD, PharmGKB
PIRSF GIRK_kir UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS KIR34CHANNEL 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 A0A5J6E2W8 ENTREZGENE, UniProtKB/TrEMBL
  B2R744 ENTREZGENE
  H7CGH0 ENTREZGENE, UniProtKB/TrEMBL
  H9A8K9_HUMAN UniProtKB/TrEMBL
  H9A8L0_HUMAN UniProtKB/TrEMBL
  KCNJ5_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q4QRJ2_HUMAN UniProtKB/TrEMBL
  Q6DK13 ENTREZGENE
  Q6DK14 ENTREZGENE
  Q92807 ENTREZGENE
UniProt Secondary B2R744 UniProtKB/Swiss-Prot
  Q6DK13 UniProtKB/Swiss-Prot
  Q6DK14 UniProtKB/Swiss-Prot
  Q92807 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-07-23 KCNJ5  potassium inwardly rectifying channel subfamily J member 5  KCNJ5  potassium voltage-gated channel subfamily J member 5  Symbol and/or name change 5135510 APPROVED
2016-02-10 KCNJ5  potassium voltage-gated channel subfamily J member 5  KCNJ5  potassium channel, inwardly rectifying subfamily J, member 5  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNJ5  potassium channel, inwardly rectifying subfamily J, member 5  KCNJ5  potassium inwardly-rectifying channel, subfamily J, member 5  Symbol and/or name change 5135510 APPROVED