KCNE1 (potassium voltage-gated channel subfamily E regulatory subunit 1) - Rat Genome Database

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Gene: KCNE1 (potassium voltage-gated channel subfamily E regulatory subunit 1) Homo sapiens
Analyze
Symbol: KCNE1
Name: potassium voltage-gated channel subfamily E regulatory subunit 1
RGD ID: 736969
HGNC Page HGNC
Description: Enables potassium channel regulator activity and telethonin binding activity. Contributes to delayed rectifier potassium channel activity and voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization. Involved in several processes, including cellular response to cAMP; ion transmembrane transport; and regulation of ion transmembrane transport. Located in cell surface and plasma membrane. Colocalizes with voltage-gated potassium channel complex. Implicated in Jervell-Lange Nielsen syndrome; atrial fibrillation; long QT syndrome; and long QT syndrome 5. Biomarker of congestive heart failure and seminoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: cardiac delayed rectifier potassium channel protein; delayed rectifier potassium channel subunit IsK; FLJ18426; FLJ38123; FLJ94103; IKs producing slow voltage-gated potassium channel subunit beta Mink; ISK; JLNS; JLNS2; Long QT syndrome 5; LQT2/5; LQT5; MGC33114; minimal potassium channel; MinK; potassium channel, voltage gated subfamily E regulatory beta subunit 1; potassium voltage-gated channel subfamily E member 1; potassium voltage-gated channel, Isk-related family, member 1; potassium voltage-gated channel, Isk-related subfamily, member 1; voltage gated potassiun channel accessory subunit
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2134,446,688 - 34,512,214 (-)EnsemblGRCh38hg38GRCh38
GRCh382134,446,688 - 34,512,210 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372135,818,986 - 35,884,508 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362134,740,858 - 34,806,443 (-)NCBINCBI36hg18NCBI36
Build 342134,740,858 - 34,806,443NCBI
Celera2121,018,555 - 21,083,181 (-)NCBI
Cytogenetic Map21q22.12ENTREZGENE
HuRef2121,297,857 - 21,363,444 (-)NCBIHuRef
CHM1_12135,381,239 - 35,446,817 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

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)

References

Additional References at PubMed
PMID:1553557   PMID:2730656   PMID:7622063   PMID:7828904   PMID:8432548   PMID:8899564   PMID:8900283   PMID:9020846   PMID:9230439   PMID:9312006   PMID:9328483   PMID:9354783  
PMID:9354802   PMID:10400998   PMID:10493825   PMID:10830953   PMID:10973849   PMID:11101505   PMID:11104781   PMID:11220365   PMID:11289718   PMID:11299204   PMID:11692163   PMID:11697903  
PMID:11714488   PMID:11799244   PMID:11874988   PMID:11891569   PMID:12084623   PMID:12477932   PMID:12522251   PMID:12634932   PMID:14527430   PMID:14661677   PMID:14702039   PMID:14760488  
PMID:14761891   PMID:15051636   PMID:15176425   PMID:15489334   PMID:15698834   PMID:15746444   PMID:16132053   PMID:16155735   PMID:16266404   PMID:16303284   PMID:16308347   PMID:16344560  
PMID:16374062   PMID:16414944   PMID:16487223   PMID:16487842   PMID:16563243   PMID:16610241   PMID:16631607   PMID:16780588   PMID:16818214   PMID:16823764   PMID:17016049   PMID:17065152  
PMID:17141204   PMID:17165161   PMID:17210839   PMID:17227789   PMID:17275752   PMID:17289006   PMID:17310097   PMID:17341399   PMID:17534376   PMID:17545244   PMID:17626898   PMID:17646758  
PMID:17892302   PMID:17895974   PMID:17905336   PMID:17980676   PMID:18079560   PMID:18157847   PMID:18279388   PMID:18398469   PMID:18426444   PMID:18441444   PMID:18504315   PMID:18611041  
PMID:18674739   PMID:18757482   PMID:18803136   PMID:18931301   PMID:18956684   PMID:19019189   PMID:19114714   PMID:19131515   PMID:19139916   PMID:19149796   PMID:19156197   PMID:19202166  
PMID:19218243   PMID:19219384   PMID:19305408   PMID:19305639   PMID:19322600   PMID:19340287   PMID:19372218   PMID:19521339   PMID:19523148   PMID:19646991   PMID:19660109   PMID:19716085  
PMID:19860128   PMID:19907016   PMID:19913121   PMID:19940153   PMID:20034061   PMID:20062063   PMID:20108749   PMID:20117060   PMID:20139709   PMID:20185111   PMID:20196769   PMID:20215044  
PMID:20298200   PMID:20301308   PMID:20301579   PMID:20386770   PMID:20400777   PMID:20424473   PMID:20479109   PMID:20494980   PMID:20533308   PMID:20553101   PMID:20628086   PMID:20920651  
PMID:20962273   PMID:21063070   PMID:21063774   PMID:21070882   PMID:21149716   PMID:21212535   PMID:21231794   PMID:21244686   PMID:21576493   PMID:21669976   PMID:21676880   PMID:21691061  
PMID:21730298   PMID:21811988   PMID:21854832   PMID:21873635   PMID:22085289   PMID:22250012   PMID:22471742   PMID:22908235   PMID:22999324   PMID:23020083   PMID:23129484   PMID:23224734  
PMID:23237912   PMID:23324056   PMID:23359697   PMID:23504710   PMID:23650380   PMID:23714088   PMID:23874724   PMID:23890619   PMID:24142691   PMID:24269949   PMID:24419801   PMID:24439990  
PMID:24457979   PMID:24499369   PMID:24561123   PMID:24696659   PMID:24713462   PMID:24769622   PMID:24827085   PMID:24920132   PMID:24952745   PMID:25037568   PMID:25234231   PMID:25366730  
PMID:25416956   PMID:25479336   PMID:25497550   PMID:26066992   PMID:26168993   PMID:26410412   PMID:26520166   PMID:26662381   PMID:26802629   PMID:26890422   PMID:27194473   PMID:27255646  
PMID:27509294   PMID:27834678   PMID:28640127   PMID:28743749   PMID:28829496   PMID:28882596   PMID:28917093   PMID:28981946   PMID:28992529   PMID:29020060   PMID:29395134   PMID:29452158  
PMID:29625280   PMID:30014849   PMID:30086202   PMID:30461122   PMID:30936463   PMID:30942114   PMID:31679457   PMID:31785237   PMID:31834838   PMID:31899541   PMID:32058015   PMID:32207011  
PMID:32316011   PMID:32833978   PMID:33095155  


Genomics

Comparative Map Data
KCNE1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2134,446,688 - 34,512,214 (-)EnsemblGRCh38hg38GRCh38
GRCh382134,446,688 - 34,512,210 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372135,818,986 - 35,884,508 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362134,740,858 - 34,806,443 (-)NCBINCBI36hg18NCBI36
Build 342134,740,858 - 34,806,443NCBI
Celera2121,018,555 - 21,083,181 (-)NCBI
Cytogenetic Map21q22.12ENTREZGENE
HuRef2121,297,857 - 21,363,444 (-)NCBIHuRef
CHM1_12135,381,239 - 35,446,817 (-)NCBICHM1_1
Kcne1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391692,142,889 - 92,156,356 (-)NCBIGRCm39mm39
GRCm39 Ensembl1692,142,870 - 92,156,356 (-)Ensembl
GRCm381692,346,001 - 92,359,468 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1692,345,982 - 92,359,468 (-)EnsemblGRCm38mm10GRCm38
MGSCv371692,346,246 - 92,359,713 (-)NCBIGRCm37mm9NCBIm37
MGSCv361692,234,860 - 92,248,327 (-)NCBImm8
Celera1693,429,327 - 93,442,798 (-)NCBICelera
Cytogenetic Map16C4NCBI
cM Map1653.57NCBI
Kcne1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21131,580,951 - 31,594,116 (-)NCBI
Rnor_6.0 Ensembl1132,498,261 - 32,508,420 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01132,498,260 - 32,511,202 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01136,101,918 - 36,117,002 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41132,344,529 - 32,355,189 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11132,400,771 - 32,411,432 (-)NCBI
Celera1131,234,627 - 31,244,787 (-)NCBICelera
RH 3.4 Map11214.7RGD
Cytogenetic Map11q11NCBI
Kcne1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495540733,807,581 - 33,814,356 (-)NCBIChiLan1.0ChiLan1.0
KCNE1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12134,187,482 - 34,252,573 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v02120,818,395 - 20,884,053 (-)NCBIMhudiblu_PPA_v0panPan3
KCNE1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13129,858,428 - 29,868,315 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3128,958,149 - 28,967,760 (-)NCBI
ROS_Cfam_1.03129,159,562 - 29,169,178 (-)NCBI
UMICH_Zoey_3.13129,025,740 - 29,034,430 (-)NCBI
UNSW_CanFamBas_1.03129,040,518 - 29,050,143 (-)NCBI
Kcne1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440497129,459,975 - 29,505,317 (-)NCBI
SpeTri2.0NW_0049365007,998,464 - 8,007,848 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNE1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.113198,051,281 - 198,059,444 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213207,879,823 - 207,887,895 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KCNE1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1278,500,755 - 78,557,275 (-)NCBI
Vero_WHO_p1.0NW_0236660546,317,391 - 6,329,488 (-)NCBI
Kcne1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474522,624,414 - 22,631,625 (-)NCBI

Position Markers
SHGC-87563  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,862,642 - 35,862,766UniSTSGRCh37
Build 362134,784,512 - 34,784,636RGDNCBI36
Celera2121,062,210 - 21,062,334RGD
Cytogenetic Map21q22.12UniSTS
HuRef2121,341,523 - 21,341,647UniSTS
TNG Radiation Hybrid Map2112292.0UniSTS
GeneMap99-GB4 RH Map21155.01UniSTS
Whitehead-RH Map21168.0UniSTS
SHGC-87562  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,819,008 - 35,819,133UniSTSGRCh37
Build 362134,740,878 - 34,741,003RGDNCBI36
Celera2121,018,575 - 21,018,700RGD
Cytogenetic Map21q22.12UniSTS
HuRef2121,297,879 - 21,298,004UniSTS
TNG Radiation Hybrid Map2112274.0UniSTS
GeneMap99-GB4 RH Map21155.01UniSTS
Whitehead-RH Map21168.0UniSTS
RH38897  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,821,726 - 35,821,874UniSTSGRCh37
Build 362134,743,596 - 34,743,744RGDNCBI36
Celera2121,021,294 - 21,021,442RGD
Cytogenetic Map21q22.12UniSTS
HuRef2121,300,598 - 21,300,746UniSTS
SHGC-51850  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,857,589 - 35,857,705UniSTSGRCh37
Build 362134,779,459 - 34,779,575RGDNCBI36
Celera2121,057,157 - 21,057,273RGD
Cytogenetic Map21q22.12UniSTS
HuRef2121,336,470 - 21,336,586UniSTS
TNG Radiation Hybrid Map2112285.0UniSTS
GDB:191985  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,821,569 - 35,821,783UniSTSGRCh37
Build 362134,743,439 - 34,743,653RGDNCBI36
Celera2121,021,137 - 21,021,351RGD
Cytogenetic Map21q22.12UniSTS
HuRef2121,300,441 - 21,300,655UniSTS
GDB:679404  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,821,525 - 35,821,960UniSTSGRCh37
Build 362134,743,395 - 34,743,830RGDNCBI36
Celera2121,021,093 - 21,021,528RGD
Cytogenetic Map21q22.12UniSTS
HuRef2121,300,397 - 21,300,832UniSTS
SHGC-1246  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,821,526 - 35,821,960UniSTSGRCh37
GRCh372135,821,526 - 35,821,758UniSTSGRCh37
Build 362134,743,396 - 34,743,830RGDNCBI36
Celera2121,021,094 - 21,021,528RGD
Celera2121,021,094 - 21,021,326UniSTS
Cytogenetic Map21q22.12UniSTS
HuRef2121,300,398 - 21,300,832UniSTS
HuRef2121,300,398 - 21,300,630UniSTS
TNG Radiation Hybrid Map2112282.0UniSTS
Stanford-G3 RH Map21928.0UniSTS
GeneMap99-G3 RH Map21928.0UniSTS
SHGC-170119  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,860,571 - 35,860,907UniSTSGRCh37
Build 362134,782,441 - 34,782,777RGDNCBI36
Celera2121,060,139 - 21,060,475RGD
Cytogenetic Map21q22.12UniSTS
HuRef2121,339,452 - 21,339,788UniSTS
TNG Radiation Hybrid Map2112317.0UniSTS
SHGC-6903  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,821,594 - 35,821,700UniSTSGRCh37
Build 362134,743,464 - 34,743,570RGDNCBI36
Celera2121,021,162 - 21,021,268RGD
Cytogenetic Map21q22.12UniSTS
HuRef2121,300,466 - 21,300,572UniSTS
GeneMap99-G3 RH Map21928.0UniSTS
KCNE1_3108  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,821,371 - 35,821,929UniSTSGRCh37
Build 362134,743,241 - 34,743,799RGDNCBI36
Celera2121,020,939 - 21,021,497RGD
HuRef2121,300,243 - 21,300,801UniSTS
SHGC-1246  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
TNG Radiation Hybrid Map2112282.0UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR1-1hsa-miR-1Mirtarbaseexternal_infoLuciferase reporter assay//Western blot//5'RACE//RFunctional MTI17443681
MIR1-1hsa-miR-1Mirecordsexternal_info{unchanged}NA17443681

Predicted Target Of
Summary Value
Count of predictions:4239
Count of miRNA genes:873
Interacting mature miRNAs:1044
Transcripts:ENST00000337385, ENST00000399284, ENST00000399286, ENST00000399289, ENST00000416357, ENST00000432085, ENST00000489175
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


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 236 240 2 4 7 38 4
Low 514 1122 399 255 828 224 710 350 306 121 504 667 33 1 770 287 1
Below cutoff 1830 1592 1265 320 471 195 3411 1769 3195 259 867 809 131 430 2414 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001270402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001270403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001270404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001270405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF135188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI720140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY789479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY789480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC046224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD370857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA418828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA806205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB089177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB214219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB223354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB230009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB233067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ784803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF514881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF514882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF514883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF514884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU008567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU008568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU008569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU008570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L28168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L33815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M26685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000337385   ⟹   ENSP00000337255
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2134,446,688 - 34,511,339 (-)Ensembl
RefSeq Acc Id: ENST00000399284   ⟹   ENSP00000382225
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2134,449,245 - 34,511,243 (-)Ensembl
RefSeq Acc Id: ENST00000399286   ⟹   ENSP00000382226
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2134,446,690 - 34,512,210 (-)Ensembl
RefSeq Acc Id: ENST00000399289   ⟹   ENSP00000382228
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2134,446,690 - 34,459,604 (-)Ensembl
RefSeq Acc Id: ENST00000416357   ⟹   ENSP00000416258
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2134,449,245 - 34,455,741 (-)Ensembl
RefSeq Acc Id: ENST00000432085   ⟹   ENSP00000412498
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2134,446,688 - 34,459,604 (-)Ensembl
RefSeq Acc Id: ENST00000489175
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2134,509,456 - 34,512,207 (-)Ensembl
RefSeq Acc Id: ENST00000611936   ⟹   ENSP00000478215
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2134,446,688 - 34,511,325 (-)Ensembl
RefSeq Acc Id: ENST00000621601   ⟹   ENSP00000483895
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2134,446,688 - 34,459,938 (-)Ensembl
RefSeq Acc Id: ENST00000683028
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2134,501,457 - 34,512,213 (-)Ensembl
RefSeq Acc Id: ENST00000683564
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2134,481,526 - 34,512,214 (-)Ensembl
RefSeq Acc Id: ENST00000684073
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2134,484,016 - 34,512,214 (-)Ensembl
RefSeq Acc Id: ENST00000684327
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2134,490,087 - 34,512,214 (-)Ensembl
RefSeq Acc Id: ENST00000684616
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2134,484,016 - 34,512,211 (-)Ensembl
RefSeq Acc Id: NM_000219   ⟹   NP_000210
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,446,690 - 34,512,210 (-)NCBI
GRCh372135,790,910 - 35,884,573 (-)NCBI
Build 362134,740,858 - 34,806,443 (-)NCBI Archive
HuRef2121,297,857 - 21,363,444 (-)NCBI
CHM1_12135,381,239 - 35,446,817 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001127668   ⟹   NP_001121140
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,446,690 - 34,459,600 (-)NCBI
GRCh372135,790,910 - 35,884,573 (-)NCBI
HuRef2121,297,857 - 21,363,444 (-)NCBI
CHM1_12135,381,239 - 35,394,156 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001127669   ⟹   NP_001121141
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,446,690 - 34,459,600 (-)NCBI
GRCh372135,790,910 - 35,884,573 (-)NCBI
HuRef2121,297,857 - 21,363,444 (-)NCBI
CHM1_12135,381,239 - 35,394,156 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001127670   ⟹   NP_001121142
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,446,690 - 34,455,809 (-)NCBI
GRCh372135,790,910 - 35,884,573 (-)NCBI
HuRef2121,297,857 - 21,363,444 (-)NCBI
CHM1_12135,381,239 - 35,390,361 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001270402   ⟹   NP_001257331
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,446,690 - 34,511,324 (-)NCBI
HuRef2121,297,857 - 21,363,444 (-)NCBI
CHM1_12135,381,239 - 35,445,881 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001270403   ⟹   NP_001257332
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,446,688 - 34,511,315 (-)NCBI
HuRef2121,297,857 - 21,363,444 (-)NCBI
CHM1_12135,381,239 - 35,445,857 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001270404   ⟹   NP_001257333
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,446,690 - 34,511,324 (-)NCBI
HuRef2121,297,857 - 21,363,444 (-)NCBI
CHM1_12135,381,239 - 35,445,881 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001270405   ⟹   NP_001257334
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,446,690 - 34,459,938 (-)NCBI
GRCh372135,790,910 - 35,884,573 (-)NCBI
HuRef2121,297,857 - 21,363,444 (-)NCBI
CHM1_12135,381,239 - 35,394,490 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000210 (Get FASTA)   NCBI Sequence Viewer  
  NP_001121140 (Get FASTA)   NCBI Sequence Viewer  
  NP_001121141 (Get FASTA)   NCBI Sequence Viewer  
  NP_001121142 (Get FASTA)   NCBI Sequence Viewer  
  NP_001257331 (Get FASTA)   NCBI Sequence Viewer  
  NP_001257332 (Get FASTA)   NCBI Sequence Viewer  
  NP_001257333 (Get FASTA)   NCBI Sequence Viewer  
  NP_001257334 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36129 (Get FASTA)   NCBI Sequence Viewer  
  AAA58418 (Get FASTA)   NCBI Sequence Viewer  
  AAA63905 (Get FASTA)   NCBI Sequence Viewer  
  AAD25096 (Get FASTA)   NCBI Sequence Viewer  
  AAH36452 (Get FASTA)   NCBI Sequence Viewer  
  AAH46224 (Get FASTA)   NCBI Sequence Viewer  
  AAX11417 (Get FASTA)   NCBI Sequence Viewer  
  AAX11418 (Get FASTA)   NCBI Sequence Viewer  
  ABQ01238 (Get FASTA)   NCBI Sequence Viewer  
  ABS31132 (Get FASTA)   NCBI Sequence Viewer  
  ABS31133 (Get FASTA)   NCBI Sequence Viewer  
  ABS31134 (Get FASTA)   NCBI Sequence Viewer  
  ABS84249 (Get FASTA)   NCBI Sequence Viewer  
  ABS84250 (Get FASTA)   NCBI Sequence Viewer  
  ABS84251 (Get FASTA)   NCBI Sequence Viewer  
  ABS84252 (Get FASTA)   NCBI Sequence Viewer  
  BAG36319 (Get FASTA)   NCBI Sequence Viewer  
  BAG65181 (Get FASTA)   NCBI Sequence Viewer  
  CAG46556 (Get FASTA)   NCBI Sequence Viewer  
  EAX09783 (Get FASTA)   NCBI Sequence Viewer  
  P15382 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000210   ⟸   NM_000219
- UniProtKB: P15382 (UniProtKB/Swiss-Prot),   C7S316 (UniProtKB/TrEMBL),   Q6FHJ6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001121141   ⟸   NM_001127669
- UniProtKB: P15382 (UniProtKB/Swiss-Prot),   A7LFK2 (UniProtKB/TrEMBL),   C7S316 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001121140   ⟸   NM_001127668
- UniProtKB: P15382 (UniProtKB/Swiss-Prot),   A7LFK2 (UniProtKB/TrEMBL),   C7S316 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001121142   ⟸   NM_001127670
- UniProtKB: P15382 (UniProtKB/Swiss-Prot),   A7LFK4 (UniProtKB/TrEMBL),   C7S316 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001257333   ⟸   NM_001270404
- UniProtKB: P15382 (UniProtKB/Swiss-Prot),   C7S316 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001257331   ⟸   NM_001270402
- UniProtKB: P15382 (UniProtKB/Swiss-Prot),   C7S316 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001257332   ⟸   NM_001270403
- UniProtKB: P15382 (UniProtKB/Swiss-Prot),   C7S316 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001257334   ⟸   NM_001270405
- UniProtKB: P15382 (UniProtKB/Swiss-Prot),   C7S316 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000382225   ⟸   ENST00000399284
RefSeq Acc Id: ENSP00000382226   ⟸   ENST00000399286
RefSeq Acc Id: ENSP00000382228   ⟸   ENST00000399289
RefSeq Acc Id: ENSP00000483895   ⟸   ENST00000621601
RefSeq Acc Id: ENSP00000478215   ⟸   ENST00000611936
RefSeq Acc Id: ENSP00000337255   ⟸   ENST00000337385
RefSeq Acc Id: ENSP00000416258   ⟸   ENST00000416357
RefSeq Acc Id: ENSP00000412498   ⟸   ENST00000432085

Promoters
RGD ID:13602722
Promoter ID:EPDNEW_H27545
Type:initiation region
Name:KCNE1_2
Description:potassium voltage-gated channel subfamily E regulatory subunit1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27546  EPDNEW_H27547  EPDNEW_H27548  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,459,599 - 34,459,659EPDNEW
RGD ID:13602724
Promoter ID:EPDNEW_H27546
Type:initiation region
Name:KCNE1_1
Description:potassium voltage-gated channel subfamily E regulatory subunit1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27545  EPDNEW_H27547  EPDNEW_H27548  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,512,210 - 34,512,270EPDNEW
RGD ID:13602726
Promoter ID:EPDNEW_H27547
Type:multiple initiation site
Name:KCNE1_4
Description:potassium voltage-gated channel subfamily E regulatory subunit1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27545  EPDNEW_H27546  EPDNEW_H27548  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,512,320 - 34,512,380EPDNEW
RGD ID:13602730
Promoter ID:EPDNEW_H27548
Type:initiation region
Name:KCNE1_3
Description:potassium voltage-gated channel subfamily E regulatory subunit1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27545  EPDNEW_H27546  EPDNEW_H27547  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,521,497 - 34,521,557EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000219.6(KCNE1):c.298C>T (p.Leu100=) single nucleotide variant Long QT syndrome [RCV001422866]|not provided [RCV000556208] Chr21:34449337 [GRCh38]
Chr21:35821635 [GRCh37]
Chr21:21q22.12
likely benign
NM_000219.6(KCNE1):c.-51+1G>A single nucleotide variant not provided [RCV000518950] Chr21:34458653 [GRCh38]
Chr21:35830951 [GRCh37]
Chr21:21q22.12
uncertain significance
NC_000021.8:g.(?_35736455)_(35821952_?)dup duplication Long QT syndrome [RCV000528150] Chr21:35736455..35821952 [GRCh37]
Chr21:21q22.11-22.12
uncertain significance
NM_000219.6(KCNE1):c.111_112inv (p.Ser38Gly) inversion Long QT syndrome [RCV000531649] Chr21:34449523..34449524 [GRCh38]
Chr21:35821821..35821822 [GRCh37]
Chr21:21q22.12
likely benign|uncertain significance
NM_000219.4:c.[172A>C;176T>C] indel Jervell and Lange-Nielsen syndrome 2 [RCV000014417]|Long QT syndrome [RCV001244610] Chr21:34449458..34449463 [GRCh38]
Chr21:35821756..35821761 [GRCh37]
Chr21:21q22.12
pathogenic|likely pathogenic
NM_000219.6(KCNE1):c.20C>T (p.Thr7Ile) single nucleotide variant Congenital long QT syndrome [RCV000119076]|Jervell and Lange-Nielsen syndrome 2 [RCV000014418] Chr21:34449615 [GRCh38]
Chr21:35821913 [GRCh37]
Chr21:21q22.12
pathogenic|not provided
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000584826]|Cardiovascular phenotype [RCV000243273]|Congenital long QT syndrome [RCV000119080]|Jervell and Lange-Nielsen syndrome 1 [RCV000148512]|Jervell and Lange-Nielsen syndrome 2 [RCV000014419]|Jervell and Lange-Nielsen syndrome [RCV000606753]|Long QT syndrome 5 [RCV000014420]|Long QT syndrome [RCV000471399]|none provided [RCV001287665]|not provided [RCV000222568]|not specified [RCV000678806] Chr21:34449409 [GRCh38]
Chr21:35821707 [GRCh37]
Chr21:21q22.12
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu) single nucleotide variant Congenital long QT syndrome [RCV000119079]|Long QT syndrome 5 [RCV000014421]|Long QT syndrome [RCV000471661]|not specified [RCV000603252] Chr21:34449414 [GRCh38]
Chr21:35821712 [GRCh37]
Chr21:21q22.12
pathogenic|uncertain significance|not provided
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) single nucleotide variant Cardiomyopathy [RCV000852954]|Cardiovascular phenotype [RCV000247942]|Congenital long QT syndrome [RCV001195103]|Jervell and Lange-Nielsen syndrome 2 [RCV000399257]|Long QT syndrome 2/5 [RCV000014423]|Long QT syndrome 5 [RCV000709727]|Long QT syndrome 5, acquired, susceptibility to [RCV000014422]|Long QT syndrome [RCV000157255]|Romano-Ward syndrome [RCV000346333]|none provided [RCV001282926]|not provided [RCV000057858]|not specified [RCV000035353] Chr21:34449382 [GRCh38]
Chr21:35821680 [GRCh37]
Chr21:21q22.12
pathogenic|risk factor|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|other|not provided
NM_000219.6(KCNE1):c.-3del deletion not specified [RCV000035350] Chr21:34449637 [GRCh38]
Chr21:35821935 [GRCh37]
Chr21:21q22.12
uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh37/hg19 21q22.1-22.3(chr21:35527952-44298520)x1 copy number loss See cases [RCV000052807] Chr21:35527952..44298520 [GRCh37]
Chr21:34449822..43171589 [NCBI36]
Chr21:21q22.1-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q22.1(chr21:35292816-36834601)x3 copy number gain See cases [RCV000053070] Chr21:35292816..36834601 [GRCh37]
Chr21:34214686..35756471 [NCBI36]
Chr21:21q22.1
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
NM_000219.6(KCNE1):c.138C>A (p.Tyr46Ter) single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000659247] Chr21:34449497 [GRCh38]
Chr21:35821795 [GRCh37]
Chr21:21q22.12
pathogenic
NM_000219.6(KCNE1):c.51G>A (p.Trp17Ter) single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000659249] Chr21:34449584 [GRCh38]
Chr21:35821882 [GRCh37]
Chr21:21q22.12
pathogenic|likely pathogenic
NM_000219.6(KCNE1):c.30G>T (p.Thr10=) single nucleotide variant Cardiac arrhythmia [RCV000030099] Chr21:34449605 [GRCh38]
Chr21:35821903 [GRCh37]
Chr21:21q22.12
likely benign
KCNE1:c.112A>G (p.Ser38Gly) single nucleotide variant AllHighlyPenetrant [RCV000035351]|not provided [RCV000057834] Chr21:34449523 [GRCh38]
Chr21:35821821 [GRCh37]
Chr21:21q22.12
benign|not provided
KCNE1:c.107G>A (p.Arg36His) single nucleotide variant not provided [RCV000057833] Chr21:34449528 [GRCh38]
Chr21:35821826 [GRCh37]
Chr21:21q22.12
not provided
KCNE1:c.115G>A (p.Asp39Asn) single nucleotide variant not provided [RCV000057835] Chr21:34449520 [GRCh38]
Chr21:35821818 [GRCh37]
Chr21:21q22.12
not provided
KCNE1:c.139G>T (p.Val47Phe) single nucleotide variant not provided [RCV000057836] Chr21:34449496 [GRCh38]
Chr21:35821794 [GRCh37]
Chr21:21q22.12
not provided
KCNE1:c.154G>A (p.Gly52Arg) single nucleotide variant not provided [RCV000057837] Chr21:34449481 [GRCh38]
Chr21:35821779 [GRCh37]
Chr21:21q22.12
not provided
KCNE1:c.155G>C (p.Gly52Ala) single nucleotide variant not provided [RCV000057838] Chr21:34449480 [GRCh38]
Chr21:35821778 [GRCh37]
Chr21:21q22.12
not provided
KCNE1:c.158T>C (p.Phe53Ser) single nucleotide variant not provided [RCV000057839] Chr21:34449477 [GRCh38]
Chr21:35821775 [GRCh37]
Chr21:21q22.12
not provided
KCNE1:c.163G>A (p.Gly55Ser) single nucleotide variant not provided [RCV000057840] Chr21:34449472 [GRCh38]
Chr21:35821770 [GRCh37]
Chr21:21q22.12
not provided
KCNE1:c.172A>C (p.Thr58Pro) single nucleotide variant not provided [RCV000057841] Chr21:34449463 [GRCh38]
Chr21:35821761 [GRCh37]
Chr21:21q22.12
not provided
KCNE1:c.176T>C (p.Leu59Pro) single nucleotide variant not provided [RCV000057842] Chr21:34449459 [GRCh38]
Chr21:35821757 [GRCh37]
Chr21:21q22.12
not provided
KCNE1:c.199C>T (p.Arg67Cys) single nucleotide variant not provided [RCV000057843] Chr21:34449436 [GRCh38]
Chr21:35821734 [GRCh37]
Chr21:21q22.12
not provided
KCNE1:c.200G>A (p.Arg67His) single nucleotide variant not provided [RCV000057844] Chr21:34449435 [GRCh38]
Chr21:35821733 [GRCh37]
Chr21:21q22.12
not provided
NM_000219.6(KCNE1):c.202T>A (p.Ser68Thr) single nucleotide variant not provided [RCV000057845] Chr21:34449433 [GRCh38]
Chr21:35821731 [GRCh37]
Chr21:21q22.12
not provided
KCNE1:c.206A>G (p.Lys69Arg) single nucleotide variant not provided [RCV000057846] Chr21:34449429 [GRCh38]
Chr21:35821727 [GRCh37]
Chr21:21q22.12
not provided
KCNE1:c.209A>T (p.Lys70Met) single nucleotide variant not provided [RCV000057847] Chr21:34449426 [GRCh38]
Chr21:35821724 [GRCh37]
Chr21:21q22.12
not provided
KCNE1:c.210G>C (p.Lys70Asn) single nucleotide variant not provided [RCV000057849] Chr21:34449425 [GRCh38]
Chr21:35821723 [GRCh37]
Chr21:21q22.12
not provided
KCNE1:c.220T>G (p.Ser74Ala) single nucleotide variant not provided [RCV000057850] Chr21:34449415 [GRCh38]
Chr21:35821713 [GRCh37]
Chr21:21q22.12
not provided
KCNE1:c.235A>G (p.Asn79Asp) single nucleotide variant not provided [RCV000057853] Chr21:34449400 [GRCh38]
Chr21:35821698 [GRCh37]
Chr21:21q22.12
not provided
KCNE1:c.23C>T (p.Ala8Val) single nucleotide variant not provided [RCV000057854] Chr21:34449612 [GRCh38]
Chr21:35821910 [GRCh37]
Chr21:21q22.12
not provided
KCNE1:c.242A>G (p.Tyr81Cys) single nucleotide variant not provided [RCV000057855] Chr21:34449393 [GRCh38]
Chr21:35821691 [GRCh37]
Chr21:21q22.12
not provided
KCNE1:c.242A>T (p.Tyr81Phe) single nucleotide variant not provided [RCV000057856] Chr21:34449393 [GRCh38]
Chr21:35821691 [GRCh37]
Chr21:21q22.12
not provided
KCNE1:c.247G>A (p.Glu83Lys) single nucleotide variant not provided [RCV000057857] Chr21:34449388 [GRCh38]
Chr21:35821686 [GRCh37]
Chr21:21q22.12
not provided
KCNE1:c.259T>C (p.Trp87Arg) single nucleotide variant not provided [RCV000057859] Chr21:34449376 [GRCh38]
Chr21:35821674 [GRCh37]
Chr21:21q22.12
not provided
KCNE1:c.292C>T (p.Arg98Trp) single nucleotide variant not provided [RCV000057860] Chr21:34449343 [GRCh38]
Chr21:35821641 [GRCh37]
Chr21:21q22.12
not provided
KCNE1:c.29C>T (p.Thr10Met) single nucleotide variant not provided [RCV000057861] Chr21:34449606 [GRCh38]
Chr21:35821904 [GRCh37]
Chr21:21q22.12
not provided
KCNE1:c.325G>A (p.Val109Ile) single nucleotide variant not provided [RCV000057862] Chr21:34449310 [GRCh38]
Chr21:35821608 [GRCh37]
Chr21:21q22.12
not provided
KCNE1:c.374C>T (p.Thr125Met) single nucleotide variant not provided [RCV000057863] Chr21:34449261 [GRCh38]
Chr21:35821559 [GRCh37]
Chr21:21q22.12
not provided
KCNE1:c.379C>A (p.Pro127Thr) single nucleotide variant not provided [RCV000057864] Chr21:34449256 [GRCh38]
Chr21:35821554 [GRCh37]
Chr21:21q22.12
not provided
KCNE1:c.59C>T (p.Thr20Ile) single nucleotide variant not provided [RCV000057865] Chr21:34449576 [GRCh38]
Chr21:35821874 [GRCh37]
Chr21:21q22.12
not provided
KCNE1:c.83C>T (p.Ser28Leu) single nucleotide variant not provided [RCV000057866] Chr21:34449552 [GRCh38]
Chr21:35821850 [GRCh37]
Chr21:21q22.12
not provided
KCNE1:c.95G>A (p.Arg32His) single nucleotide variant not provided [RCV000057867] Chr21:34449540 [GRCh38]
Chr21:35821838 [GRCh37]
Chr21:21q22.12
not provided
NM_000219.6(KCNE1):c.107G>A (p.Arg36His) single nucleotide variant Congenital long QT syndrome [RCV000119062]|Long QT syndrome [RCV000590868]|not provided [RCV000866274]|not specified [RCV000605056] Chr21:34449528 [GRCh38]
Chr21:35821826 [GRCh37]
Chr21:21q22.12
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000219.6(KCNE1):c.112A>G (p.Ser38Gly) single nucleotide variant Cardiovascular phenotype [RCV000241651]|Hearing loss, noise-induced, susceptibility to [RCV000171811]|Jervell and Lange-Nielsen syndrome 2 [RCV000312558]|Long QT syndrome 5 [RCV001094634]|Long QT syndrome [RCV000398637]|Romano-Ward syndrome [RCV000352011]|none provided [RCV001282217]|not provided [RCV000119063]|not specified [RCV000035351] Chr21:34449523 [GRCh38]
Chr21:35821821 [GRCh37]
Chr21:21q22.12
benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided
NM_000219.6(KCNE1):c.115G>A (p.Asp39Asn) single nucleotide variant not provided [RCV000119064] Chr21:34449520 [GRCh38]
Chr21:35821818 [GRCh37]
Chr21:21q22.12
benign|not provided
NM_000219.6(KCNE1):c.139G>T (p.Val47Phe) single nucleotide variant Congenital long QT syndrome [RCV000119065] Chr21:34449496 [GRCh38]
Chr21:35821794 [GRCh37]
Chr21:21q22.12
pathogenic|not provided
NM_000219.6(KCNE1):c.154G>A (p.Gly52Arg) single nucleotide variant Congenital long QT syndrome [RCV000119066]|Long QT syndrome [RCV001384619] Chr21:34449481 [GRCh38]
Chr21:35821779 [GRCh37]
Chr21:21q22.12
pathogenic|not provided
NM_000219.6(KCNE1):c.155G>C (p.Gly52Ala) single nucleotide variant not provided [RCV000119067] Chr21:34449480 [GRCh38]
Chr21:35821778 [GRCh37]
Chr21:21q22.12
benign|not provided
NM_000219.6(KCNE1):c.158T>C (p.Phe53Ser) single nucleotide variant Congenital long QT syndrome [RCV000119068] Chr21:34449477 [GRCh38]
Chr21:35821775 [GRCh37]
Chr21:21q22.12
pathogenic|not provided
NM_000219.6(KCNE1):c.163G>A (p.Gly55Ser) single nucleotide variant Congenital long QT syndrome [RCV000119069]|Long QT syndrome [RCV000463748]|not provided [RCV000786139]|not specified [RCV000150858] Chr21:34449472 [GRCh38]
Chr21:35821770 [GRCh37]
Chr21:21q22.12
pathogenic|uncertain significance|not provided
NM_000219.6(KCNE1):c.172A>C (p.Thr58Pro) single nucleotide variant Congenital long QT syndrome [RCV000119070]|not specified [RCV000454763] Chr21:34449463 [GRCh38]
Chr21:35821761 [GRCh37]
Chr21:21q22.12
pathogenic|uncertain significance|not provided
NM_000219.6(KCNE1):c.176T>C (p.Leu59Pro) single nucleotide variant Congenital long QT syndrome [RCV000119071]|not specified [RCV000455708] Chr21:34449459 [GRCh38]
Chr21:35821757 [GRCh37]
Chr21:21q22.12
pathogenic|uncertain significance|not provided
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys) single nucleotide variant Cardiovascular phenotype [RCV000253612]|Congenital long QT syndrome [RCV000119072]|Long QT syndrome [RCV000705214]|not provided [RCV000479909]|not specified [RCV000156530] Chr21:34449436 [GRCh38]
Chr21:35821734 [GRCh37]
Chr21:21q22.12
pathogenic|likely pathogenic|uncertain significance|not provided
NM_000219.6(KCNE1):c.200G>A (p.Arg67His) single nucleotide variant Cardiovascular phenotype [RCV000621667]|Congenital long QT syndrome [RCV000119073]|Jervell and Lange-Nielsen syndrome 2 [RCV001335180]|Long QT syndrome [RCV000148517]|not provided [RCV000413332]|not specified [RCV000223718] Chr21:34449435 [GRCh38]
Chr21:35821733 [GRCh37]
Chr21:21q22.12
pathogenic|likely pathogenic|uncertain significance|not provided
NM_000219.6(KCNE1):c.206A>G (p.Lys69Arg) single nucleotide variant Long QT syndrome [RCV001213633]|not provided [RCV000119074] Chr21:34449429 [GRCh38]
Chr21:35821727 [GRCh37]
Chr21:21q22.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000219.6(KCNE1):c.209A>T (p.Lys70Met) single nucleotide variant Congenital long QT syndrome [RCV000119075] Chr21:34449426 [GRCh38]
Chr21:35821724 [GRCh37]
Chr21:21q22.12
pathogenic|not provided
NM_000219.6(KCNE1):c.210G>C (p.Lys70Asn) single nucleotide variant Congenital long QT syndrome [RCV000119077] Chr21:34449425 [GRCh38]
Chr21:35821723 [GRCh37]
Chr21:21q22.12
pathogenic|not provided
NM_000219.6(KCNE1):c.220T>G (p.Ser74Ala) single nucleotide variant not provided [RCV000119078] Chr21:34449415 [GRCh38]
Chr21:35821713 [GRCh37]
Chr21:21q22.12
benign|not provided
NM_000219.6(KCNE1):c.235A>G (p.Asn79Asp) single nucleotide variant not provided [RCV000119081] Chr21:34449400 [GRCh38]
Chr21:35821698 [GRCh37]
Chr21:21q22.12
benign|not provided
NM_000219.6(KCNE1):c.23C>T (p.Ala8Val) single nucleotide variant Cardiovascular phenotype [RCV000618807]|Congenital long QT syndrome [RCV000119082]|Long QT syndrome 5 [RCV000677314]|Long QT syndrome [RCV000148516]|not specified [RCV000455223] Chr21:34449612 [GRCh38]
Chr21:35821910 [GRCh37]
Chr21:21q22.12
pathogenic|uncertain significance|not provided
NM_000219.6(KCNE1):c.242A>G (p.Tyr81Cys) single nucleotide variant Congenital long QT syndrome [RCV000119083]|Long QT syndrome [RCV000795910] Chr21:34449393 [GRCh38]
Chr21:35821691 [GRCh37]
Chr21:21q22.12
pathogenic|uncertain significance|not provided
NM_000219.6(KCNE1):c.242A>T (p.Tyr81Phe) single nucleotide variant not provided [RCV000119084] Chr21:34449393 [GRCh38]
Chr21:35821691 [GRCh37]
Chr21:21q22.12
benign|not provided
NM_000219.6(KCNE1):c.247G>A (p.Glu83Lys) single nucleotide variant Cardiovascular phenotype [RCV000250531]|Congenital long QT syndrome [RCV000119085]|Jervell and Lange-Nielsen syndrome 2 [RCV000765503]|Long QT syndrome [RCV001340194]|not specified [RCV000454805] Chr21:34449388 [GRCh38]
Chr21:35821686 [GRCh37]
Chr21:21q22.12
pathogenic|uncertain significance|not provided
NM_000219.6(KCNE1):c.259T>C (p.Trp87Arg) single nucleotide variant Congenital long QT syndrome [RCV000119087] Chr21:34449376 [GRCh38]
Chr21:35821674 [GRCh37]
Chr21:21q22.12
pathogenic|not provided
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) single nucleotide variant Cardiovascular phenotype [RCV000619552]|Congenital long QT syndrome [RCV000119088]|Long QT syndrome 5 [RCV000709726]|Long QT syndrome [RCV000171560]|not provided [RCV001090977] Chr21:34449343 [GRCh38]
Chr21:35821641 [GRCh37]
Chr21:34743511 [NCBI36]
Chr21:21q22.12
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000219.6(KCNE1):c.29C>T (p.Thr10Met) single nucleotide variant Cardiovascular phenotype [RCV000618890]|Congenital long QT syndrome [RCV000119089]|Jervell and Lange-Nielsen syndrome 2 [RCV001139931]|Long QT syndrome [RCV000148515]|not specified [RCV000208391] Chr21:34449606 [GRCh38]
Chr21:35821904 [GRCh37]
Chr21:34743774 [NCBI36]
Chr21:21q22.12
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000219.6(KCNE1):c.325G>A (p.Val109Ile) single nucleotide variant Long QT syndrome 5 [RCV000678944]|Long QT syndrome [RCV000148514]|not provided [RCV000119090]|not specified [RCV000455774] Chr21:34449310 [GRCh38]
Chr21:35821608 [GRCh37]
Chr21:21q22.12
uncertain significance|not provided
NM_000219.6(KCNE1):c.374C>T (p.Thr125Met) single nucleotide variant Cardiovascular phenotype [RCV000621107]|Congenital long QT syndrome [RCV000119091]|Jervell and Lange-Nielsen syndrome 2 [RCV000321437]|Long QT syndrome 5 [RCV001094734]|Long QT syndrome [RCV000148513]|not specified [RCV000150856] Chr21:34449261 [GRCh38]
Chr21:35821559 [GRCh37]
Chr21:21q22.12
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000219.6(KCNE1):c.379C>A (p.Pro127Thr) single nucleotide variant Congenital long QT syndrome [RCV000119092] Chr21:34449256 [GRCh38]
Chr21:35821554 [GRCh37]
Chr21:21q22.12
pathogenic|not provided
NM_000219.6(KCNE1):c.59C>T (p.Thr20Ile) single nucleotide variant Congenital long QT syndrome [RCV000119093] Chr21:34449576 [GRCh38]
Chr21:35821874 [GRCh37]
Chr21:21q22.12
pathogenic|not provided
NM_000219.6(KCNE1):c.83C>T (p.Ser28Leu) single nucleotide variant Cardiovascular phenotype [RCV000621764]|Congenital long QT syndrome [RCV000119094]|Long QT syndrome [RCV001247384]|not provided [RCV000413822] Chr21:34449552 [GRCh38]
Chr21:35821850 [GRCh37]
Chr21:21q22.12
pathogenic|uncertain significance|not provided
NM_000219.6(KCNE1):c.-161-753T>G single nucleotide variant not specified [RCV000126405] Chr21:34459517 [GRCh38]
Chr21:35831815 [GRCh37]
Chr21:21q22.12
benign
NM_000219.6(KCNE1):c.24G>A (p.Ala8=) single nucleotide variant not provided [RCV000992224]|not specified [RCV000126406] Chr21:34449611 [GRCh38]
Chr21:35821909 [GRCh37]
Chr21:21q22.12
benign|likely benign
NM_000219.6(KCNE1):c.95G>A (p.Arg32His) single nucleotide variant Congenital long QT syndrome [RCV000119095]|Jervell and Lange-Nielsen syndrome 2 [RCV001137708]|Long QT syndrome [RCV000631564]|not provided [RCV000478192]|not specified [RCV000781483] Chr21:34449540 [GRCh38]
Chr21:35821838 [GRCh37]
Chr21:21q22.12
likely pathogenic|uncertain significance|not provided
NM_000219.6(KCNE1):c.109A>G (p.Ser37Gly) single nucleotide variant not provided [RCV000171658] Chr21:34449526 [GRCh38]
Chr21:35821824 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.94C>T (p.Arg32Cys) single nucleotide variant Long QT syndrome [RCV000477070]|not provided [RCV000171659] Chr21:34449541 [GRCh38]
Chr21:35821839 [GRCh37]
Chr21:21q22.12
uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3 copy number gain See cases [RCV000133676] Chr21:7749532..42971047 [GRCh38]
Chr21:15499847..44391157 [GRCh37]
Chr21:14421718..43264226 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q22.11-22.12(chr21:34997018-36118212)x3 copy number gain See cases [RCV000136827] Chr21:34997018..36118212 [GRCh37]
Chr21:33918888..35040082 [NCBI36]
Chr21:21q22.11-22.12
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1 copy number loss See cases [RCV000138095] Chr21:7749532..37653653 [GRCh38]
Chr21:15451032..39025955 [GRCh37]
Chr21:14372903..37947825 [NCBI36]
Chr21:21p11.2-q22.13
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting data from submitters
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3
uncertain significance
GRCh37/hg19 21q21.3-22.12(chr21:29880468-36062331)x1 copy number loss See cases [RCV000141575] Chr21:29880468..36062331 [GRCh37]
Chr21:28802339..34984201 [NCBI36]
Chr21:21q21.3-22.12
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q22.12(chr21:34507402-34693381)x1 copy number loss See cases [RCV000142801] Chr21:34507402..34693381 [GRCh38]
Chr21:35879700..36065680 [GRCh37]
Chr21:34801570..34987550 [NCBI36]
Chr21:21q22.12
uncertain significance
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
NM_000219.5(KCNE1):c.(?_1)_(390_?)dup duplication not specified [RCV000156364] Chr21:34449245..34449634 [GRCh38]
Chr21:35821543..35821932 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.174C>G (p.Thr58=) single nucleotide variant Long QT syndrome [RCV000861864]|not specified [RCV000150857] Chr21:34449461 [GRCh38]
Chr21:35821759 [GRCh37]
Chr21:21q22.12
likely benign
NM_000219.6(KCNE1):c.18C>G (p.Thr6=) single nucleotide variant not specified [RCV000150860] Chr21:34449617 [GRCh38]
Chr21:35821915 [GRCh37]
Chr21:21q22.12
likely benign
NM_000219.6(KCNE1):c.30G>A (p.Thr10=) single nucleotide variant Cardiovascular phenotype [RCV000619161]|Jervell and Lange-Nielsen syndrome 2 [RCV000329242]|Long QT syndrome 5 [RCV001094688]|Long QT syndrome [RCV000205857]|Romano-Ward syndrome [RCV000264751]|not provided [RCV000857749]|not specified [RCV000150859] Chr21:34449605 [GRCh38]
Chr21:35821903 [GRCh37]
Chr21:21q22.12
benign|likely benign|conflicting interpretations of pathogenicity
NM_000219.6(KCNE1):c.84G>A (p.Ser28=) single nucleotide variant Cardiovascular phenotype [RCV000248775]|Jervell and Lange-Nielsen syndrome 2 [RCV000393664]|Long QT syndrome 5 [RCV001094635]|Long QT syndrome [RCV000228309]|none provided [RCV001289577]|not provided [RCV000589403]|not specified [RCV000155364] Chr21:34449551 [GRCh38]
Chr21:35821849 [GRCh37]
Chr21:21q22.12
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q22.11-22.12(chr21:35733290-35904053)x3 copy number gain See cases [RCV000258810] Chr21:35733290..35904053 [GRCh37]
Chr21:21q22.11-22.12
likely benign
NM_000219.6(KCNE1):c.292C>G (p.Arg98Gly) single nucleotide variant Long QT syndrome [RCV001234392]|not specified [RCV000222068] Chr21:34449343 [GRCh38]
Chr21:35821641 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.297C>G (p.Val99=) single nucleotide variant not specified [RCV000222270] Chr21:34449338 [GRCh38]
Chr21:35821636 [GRCh37]
Chr21:21q22.12
likely benign
NM_000219.6(KCNE1):c.238G>A (p.Val80Ile) single nucleotide variant Long QT syndrome [RCV001213333]|not specified [RCV000217662] Chr21:34449397 [GRCh38]
Chr21:35821695 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.5(KCNE1):c.(?_-50)-60_*(181_?)dup duplication not specified [RCV000217990] Chr21:34449064..34449744 [GRCh38]
Chr21:35821362..35822042 [GRCh37]
Chr21:21q22.12
likely benign
NM_000219.6(KCNE1):c.162C>T (p.Phe54=) single nucleotide variant Cardiovascular phenotype [RCV000619470]|Jervell and Lange-Nielsen syndrome 2 [RCV001142456]|Long QT syndrome 5 [RCV001142455]|Long QT syndrome [RCV000469999]|not specified [RCV000214091] Chr21:34449473 [GRCh38]
Chr21:35821771 [GRCh37]
Chr21:21q22.12
benign|likely benign
NM_000219.6(KCNE1):c.293G>A (p.Arg98Gln) single nucleotide variant Cardiomyopathy [RCV000852542]|Long QT syndrome [RCV001321783]|not specified [RCV000215133] Chr21:34449342 [GRCh38]
Chr21:35821640 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.123G>C (p.Lys41Asn) single nucleotide variant Cardiovascular phenotype [RCV000620863]|Long QT syndrome [RCV000230619] Chr21:34449512 [GRCh38]
Chr21:35821810 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.158T>G (p.Phe53Cys) single nucleotide variant not specified [RCV000223891] Chr21:34449477 [GRCh38]
Chr21:35821775 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.175C>T (p.Leu59=) single nucleotide variant Long QT syndrome [RCV001464815]|not provided [RCV000234611] Chr21:34449460 [GRCh38]
Chr21:35821758 [GRCh37]
Chr21:21q22.12
likely benign
NM_000219.6(KCNE1):c.137A>G (p.Tyr46Cys) single nucleotide variant Rare genetic deafness [RCV000612549]|not provided [RCV000786138] Chr21:34449498 [GRCh38]
Chr21:35821796 [GRCh37]
Chr21:21q22.12
likely pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NM_000219.6(KCNE1):c.262C>T (p.Gln88Ter) single nucleotide variant not provided [RCV000256077] Chr21:34449373 [GRCh38]
Chr21:35821671 [GRCh37]
Chr21:21q22.12
pathogenic
NM_000219.6(KCNE1):c.*1219A>G single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000317773]|Long QT syndrome 5 [RCV000374470]|Romano-Ward syndrome [RCV000282237] Chr21:34448026 [GRCh38]
Chr21:35820324 [GRCh37]
Chr21:21q22.12
benign
NM_000219.6(KCNE1):c.*30C>G single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000315774]|Long QT syndrome 5 [RCV000379652]|Romano-Ward syndrome [RCV000285233] Chr21:34449215 [GRCh38]
Chr21:35821513 [GRCh37]
Chr21:21q22.12
likely benign|uncertain significance
NM_000219.6(KCNE1):c.*1338C>T single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000272120]|Long QT syndrome 5 [RCV000306273]|Romano-Ward syndrome [RCV000363260] Chr21:34447907 [GRCh38]
Chr21:35820205 [GRCh37]
Chr21:21q22.12
likely benign|uncertain significance
NM_000219.6(KCNE1):c.*1859G>A single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000357216]|Long QT syndrome 5 [RCV000331639]|Romano-Ward syndrome [RCV000273940] Chr21:34447386 [GRCh38]
Chr21:35819684 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.-464G>A single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000263187]|Long QT syndrome 5 [RCV000367279]|Romano-Ward syndrome [RCV000312620] Chr21:34512114 [GRCh38]
Chr21:35884412 [GRCh37]
Chr21:21q22.12
benign
NM_000219.6(KCNE1):c.*457G>A single nucleotide variant Jervell and Lange-Nielsen syndrome [RCV000325014]|Long QT syndrome [RCV000370314]|Romano-Ward syndrome [RCV000269991] Chr21:34448788 [GRCh38]
Chr21:35821086 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.*946del deletion Jervell and Lange-Nielsen syndrome [RCV000354103]|Long QT syndrome [RCV000261595]|Romano-Ward syndrome [RCV000319572] Chr21:34448299 [GRCh38]
Chr21:35820597 [GRCh37]
Chr21:21q22.12
likely benign
NM_000219.6(KCNE1):c.*2194T>C single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000313596]|Long QT syndrome 5 [RCV000364018]|Romano-Ward syndrome [RCV000269432] Chr21:34447051 [GRCh38]
Chr21:35819349 [GRCh37]
Chr21:21q22.12
likely benign
NM_000219.6(KCNE1):c.*2480A>G single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000325319]|Long QT syndrome 5 [RCV000384459]|Romano-Ward syndrome [RCV000270209] Chr21:34446765 [GRCh38]
Chr21:35819063 [GRCh37]
Chr21:21q22.12
benign
NM_000219.6(KCNE1):c.*132A>G single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000308012]|Long QT syndrome 5 [RCV000392402]|Romano-Ward syndrome [RCV000362734] Chr21:34449113 [GRCh38]
Chr21:35821411 [GRCh37]
Chr21:21q22.12
benign
NM_000219.6(KCNE1):c.*2461A>G single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000321877]|Long QT syndrome 5 [RCV000271373]|Romano-Ward syndrome [RCV000376502] Chr21:34446784 [GRCh38]
Chr21:35819082 [GRCh37]
Chr21:21q22.12
benign|likely benign
NM_000219.6(KCNE1):c.*2150G>A single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000365248]|Long QT syndrome 5 [RCV000265999]|Romano-Ward syndrome [RCV000310535] Chr21:34447095 [GRCh38]
Chr21:35819393 [GRCh37]
Chr21:21q22.12
likely benign
NM_000219.6(KCNE1):c.-377+13G>A single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000401874]|Long QT syndrome 5 [RCV000291090]|Romano-Ward syndrome [RCV000345983] Chr21:34512014 [GRCh38]
Chr21:35884312 [GRCh37]
Chr21:21q22.12
likely benign|uncertain significance
NM_000219.6(KCNE1):c.*124A>G single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000274185]|Long QT syndrome 5 [RCV000313990]|Romano-Ward syndrome [RCV000368775] Chr21:34449121 [GRCh38]
Chr21:35821419 [GRCh37]
Chr21:21q22.12
benign
NM_000219.6(KCNE1):c.*1666G>A single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000332211]|Long QT syndrome 5 [RCV000370660]|Romano-Ward syndrome [RCV000274814] Chr21:34447579 [GRCh38]
Chr21:35819877 [GRCh37]
Chr21:21q22.12
likely benign
NM_000219.6(KCNE1):c.-253A>G single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000330415]|Long QT syndrome 5 [RCV000375731]|Romano-Ward syndrome [RCV000275280] Chr21:34511192 [GRCh38]
Chr21:35883490 [GRCh37]
Chr21:21q22.12
benign|likely benign
NM_000219.6(KCNE1):c.*2320G>T single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000404551]|Long QT syndrome 5 [RCV000348643]|Romano-Ward syndrome [RCV000312463] Chr21:34446925 [GRCh38]
Chr21:35819223 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.*1547dup duplication Jervell and Lange-Nielsen syndrome [RCV000338641]|Long QT syndrome [RCV000390910]|Romano-Ward syndrome [RCV000281325] Chr21:34447697..34447698 [GRCh38]
Chr21:35819995..35819996 [GRCh37]
Chr21:21q22.12
benign
NM_000219.6(KCNE1):c.*2329C>A single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000278539]|Long QT syndrome 5 [RCV000392163]|Romano-Ward syndrome [RCV000338246] Chr21:34446916 [GRCh38]
Chr21:35819214 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.*1928T>C single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000353844]|Long QT syndrome 5 [RCV000318719]|Romano-Ward syndrome [RCV000261118] Chr21:34447317 [GRCh38]
Chr21:35819615 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.-298C>T single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000279507]|Long QT syndrome 5 [RCV000334504]|Romano-Ward syndrome [RCV000379724] Chr21:34511237 [GRCh38]
Chr21:35883535 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.-82T>G single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000337681]|Long QT syndrome 5 [RCV000385302]|Romano-Ward syndrome [RCV000281665] Chr21:34458685 [GRCh38]
Chr21:35830983 [GRCh37]
Chr21:21q22.12
likely benign|uncertain significance
NM_000219.6(KCNE1):c.*373A>G single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000281418]|Long QT syndrome 5 [RCV000372525]|Romano-Ward syndrome [RCV000317913] Chr21:34448872 [GRCh38]
Chr21:35821170 [GRCh37]
Chr21:21q22.12
likely benign|uncertain significance
NM_000219.6(KCNE1):c.*2098T>C single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000282602]|Long QT syndrome 5 [RCV000317734]|Romano-Ward syndrome [RCV000372421] Chr21:34447147 [GRCh38]
Chr21:35819445 [GRCh37]
Chr21:21q22.12
benign|likely benign
NM_000219.6(KCNE1):c.108_109delinsGG (p.Ser37Gly) indel not provided [RCV000383746] Chr21:34449526..34449527 [GRCh38]
Chr21:35821824..35821825 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.*1574C>T single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000283367]|Long QT syndrome 5 [RCV000322032]|Romano-Ward syndrome [RCV000379193] Chr21:34447671 [GRCh38]
Chr21:35819969 [GRCh37]
Chr21:21q22.12
likely benign|uncertain significance
NM_000219.6(KCNE1):c.*1831C>T single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000284341]|Long QT syndrome 5 [RCV000341729]|Romano-Ward syndrome [RCV000400076] Chr21:34447414 [GRCh38]
Chr21:35819712 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.-522C>T single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000284670]|Long QT syndrome 5 [RCV000324473]|Romano-Ward syndrome [RCV000379025] Chr21:34512172 [GRCh38]
Chr21:35884470 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.*1838T>A single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000388452]|Long QT syndrome 5 [RCV000296379]|Romano-Ward syndrome [RCV000325658] Chr21:34447407 [GRCh38]
Chr21:35819705 [GRCh37]
Chr21:21q22.12
likely benign
NM_000219.6(KCNE1):c.-13C>T single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000325106]|Long QT syndrome 5 [RCV000270067]|Romano-Ward syndrome [RCV000383873]|not specified [RCV000603464] Chr21:34449647 [GRCh38]
Chr21:35821945 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.-375A>G single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000285301]|Long QT syndrome 5 [RCV000402365]|Romano-Ward syndrome [RCV000340171] Chr21:34511314 [GRCh38]
Chr21:35883612 [GRCh37]
Chr21:21q22.12
benign|likely benign
NM_000219.6(KCNE1):c.*2529C>T single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000330358]|Long QT syndrome 5 [RCV000275315]|Romano-Ward syndrome [RCV000370971] Chr21:34446716 [GRCh38]
Chr21:35819014 [GRCh37]
Chr21:21q22.12
benign
NM_000219.6(KCNE1):c.*456C>T single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000330810]|Long QT syndrome 5 [RCV000275693]|Romano-Ward syndrome [RCV000375978] Chr21:34448789 [GRCh38]
Chr21:35821087 [GRCh37]
Chr21:21q22.12
benign
NM_000219.6(KCNE1):c.*817A>G single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000345121]|Long QT syndrome 5 [RCV000389155]|Romano-Ward syndrome [RCV000287785] Chr21:34448428 [GRCh38]
Chr21:35820726 [GRCh37]
Chr21:21q22.12
likely benign
NM_000219.6(KCNE1):c.*923G>A single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000385842]|Long QT syndrome 5 [RCV000275073]|Romano-Ward syndrome [RCV000332472] Chr21:34448322 [GRCh38]
Chr21:35820620 [GRCh37]
Chr21:21q22.12
likely benign
NM_000219.6(KCNE1):c.*490G>C single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000311815]|Long QT syndrome 5 [RCV000368873]|Romano-Ward syndrome [RCV000407038] Chr21:34448755 [GRCh38]
Chr21:35821053 [GRCh37]
Chr21:21q22.12
benign
NM_000219.6(KCNE1):c.*493C>T single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000407029]|Long QT syndrome 5 [RCV000298871]|Romano-Ward syndrome [RCV000355983] Chr21:34448752 [GRCh38]
Chr21:35821050 [GRCh37]
Chr21:21q22.12
likely benign|uncertain significance
NM_000219.6(KCNE1):c.-252G>A single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000333778]|Long QT syndrome 5 [RCV000269362]|Romano-Ward syndrome [RCV000388376] Chr21:34511191 [GRCh38]
Chr21:35883489 [GRCh37]
Chr21:21q22.12
benign
NM_000219.6(KCNE1):c.-467A>T single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000259798]|Long QT syndrome 5 [RCV000318393]|Romano-Ward syndrome [RCV000354695] Chr21:34512117 [GRCh38]
Chr21:35884415 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.*1226_*1229del deletion Jervell and Lange-Nielsen syndrome [RCV000323521]|Long QT syndrome [RCV000380385]|Romano-Ward syndrome [RCV000260169] Chr21:34448016..34448019 [GRCh38]
Chr21:35820314..35820317 [GRCh37]
Chr21:21q22.12
likely benign
NM_000219.6(KCNE1):c.*2413T>A single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000341805]|Long QT syndrome 5 [RCV000286782]|Romano-Ward syndrome [RCV000372588] Chr21:34446832 [GRCh38]
Chr21:35819130 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.*268C>T single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000342165]|Long QT syndrome 5 [RCV000287165]|Romano-Ward syndrome [RCV000398377] Chr21:34448977 [GRCh38]
Chr21:35821275 [GRCh37]
Chr21:21q22.12
benign|likely benign
NM_000219.6(KCNE1):c.*91del deletion Jervell and Lange-Nielsen syndrome [RCV000260550]|Long QT syndrome [RCV000355537]|Romano-Ward syndrome [RCV000319370] Chr21:34449154 [GRCh38]
Chr21:35821452 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.-100T>C single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000400834]|Long QT syndrome 5 [RCV000343532]|Romano-Ward syndrome [RCV000297973]|not specified [RCV000611190] Chr21:34458703 [GRCh38]
Chr21:35831001 [GRCh37]
Chr21:21q22.12
benign|likely benign
NM_000219.5(KCNE1):c.-605G>A single nucleotide variant Jervell and Lange-Nielsen syndrome [RCV000355319]|Long QT syndrome [RCV000393687]|Romano-Ward syndrome [RCV000299060] Chr21:34512255 [GRCh38]
Chr21:35884553 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.*2000C>T single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000267179]|Long QT syndrome 5 [RCV000306070]|Romano-Ward syndrome [RCV000359582] Chr21:34447245 [GRCh38]
Chr21:35819543 [GRCh37]
Chr21:21q22.12
likely benign
NM_000219.6(KCNE1):c.*196C>G single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000392389]|Long QT syndrome 5 [RCV000283759]|Romano-Ward syndrome [RCV000347786] Chr21:34449049 [GRCh38]
Chr21:35821347 [GRCh37]
Chr21:21q22.12
likely benign|uncertain significance
NM_000219.6(KCNE1):c.*578T>C single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000339607]|Long QT syndrome 5 [RCV000291708]|Romano-Ward syndrome [RCV000383404] Chr21:34448667 [GRCh38]
Chr21:35820965 [GRCh37]
Chr21:21q22.12
benign
NM_000219.6(KCNE1):c.*1322A>G single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000266260]|Long QT syndrome 5 [RCV000358541]|Romano-Ward syndrome [RCV000310858] Chr21:34447923 [GRCh38]
Chr21:35820221 [GRCh37]
Chr21:21q22.12
benign
NM_000219.6(KCNE1):c.-101A>T single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000303834]|Long QT syndrome 5 [RCV000407497]|Romano-Ward syndrome [RCV000358576] Chr21:34458704 [GRCh38]
Chr21:35831002 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.*2103C>T single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000267064]|Long QT syndrome 5 [RCV000380296]|Romano-Ward syndrome [RCV000321067] Chr21:34447142 [GRCh38]
Chr21:35819440 [GRCh37]
Chr21:21q22.12
benign|likely benign
NM_000219.6(KCNE1):c.54G>A (p.Gln18=) single nucleotide variant Cardiovascular phenotype [RCV000620907]|Jervell and Lange-Nielsen syndrome 2 [RCV000353483]|Long QT syndrome 5 [RCV001094687]|Long QT syndrome [RCV000304677]|Romano-Ward syndrome [RCV000268131] Chr21:34449581 [GRCh38]
Chr21:35821879 [GRCh37]
Chr21:21q22.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000219.6(KCNE1):c.*553A>G single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000401308]|Long QT syndrome 5 [RCV000343221]|Romano-Ward syndrome [RCV000304544] Chr21:34448692 [GRCh38]
Chr21:35820990 [GRCh37]
Chr21:21q22.12
likely benign|uncertain significance
NM_000219.6(KCNE1):c.-432G>A single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000306727]|Long QT syndrome 5 [RCV000370758]|Romano-Ward syndrome [RCV000408033] Chr21:34512082 [GRCh38]
Chr21:35884380 [GRCh37]
Chr21:21q22.12
likely benign|uncertain significance
NM_000219.5(KCNE1):c.-577C>T single nucleotide variant Jervell and Lange-Nielsen syndrome [RCV000351908]|Long QT syndrome [RCV000312069]|Romano-Ward syndrome [RCV000399703] Chr21:34512227 [GRCh38]
Chr21:35884525 [GRCh37]
Chr21:21q22.12
benign
NM_000219.6(KCNE1):c.*1068A>C single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000352549]|Long QT syndrome 5 [RCV000308237]|Romano-Ward syndrome [RCV000392689] Chr21:34448177 [GRCh38]
Chr21:35820475 [GRCh37]
Chr21:21q22.12
benign
NM_000219.6(KCNE1):c.*1815A>G single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000354611]|Long QT syndrome 5 [RCV000296849]|Romano-Ward syndrome [RCV000408350] Chr21:34447430 [GRCh38]
Chr21:35819728 [GRCh37]
Chr21:21q22.12
benign|likely benign
NM_000219.6(KCNE1):c.111C>T (p.Ser37=) single nucleotide variant Cardiovascular phenotype [RCV000617220]|Jervell and Lange-Nielsen syndrome 2 [RCV001137706]|Long QT syndrome 5 [RCV001137707]|not specified [RCV000602828] Chr21:34449524 [GRCh38]
Chr21:35821822 [GRCh37]
Chr21:21q22.12
likely benign|uncertain significance
NM_000219.6(KCNE1):c.-530G>A single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000321037]|Long QT syndrome 5 [RCV000384945]|Romano-Ward syndrome [RCV000291271] Chr21:34512180 [GRCh38]
Chr21:35884478 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.*2001G>A single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000302625]|Long QT syndrome 5 [RCV000392758]|Romano-Ward syndrome [RCV000346988] Chr21:34447244 [GRCh38]
Chr21:35819542 [GRCh37]
Chr21:21q22.12
likely benign|uncertain significance
NM_000219.6(KCNE1):c.*1043T>C single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000347407]|Long QT syndrome 5 [RCV000303083]|Romano-Ward syndrome [RCV000392691] Chr21:34448202 [GRCh38]
Chr21:35820500 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.*2008G>A single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000337585]|Long QT syndrome 5 [RCV000387499]|Romano-Ward syndrome [RCV000293215] Chr21:34447237 [GRCh38]
Chr21:35819535 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.*1832C>T single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000382207]|Long QT syndrome 5 [RCV000290097]|Romano-Ward syndrome [RCV000347495] Chr21:34447413 [GRCh38]
Chr21:35819711 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.*1192A>G single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000348871]|Long QT syndrome 5 [RCV000295316]|Romano-Ward syndrome [RCV000387043] Chr21:34448053 [GRCh38]
Chr21:35820351 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.-57T>C single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000294583]|Long QT syndrome 5 [RCV000349539]|Romano-Ward syndrome [RCV000388969] Chr21:34458660 [GRCh38]
Chr21:35830958 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.5(KCNE1):c.-561C>T single nucleotide variant Jervell and Lange-Nielsen syndrome [RCV000343856]|Long QT syndrome [RCV000399446]|Romano-Ward syndrome [RCV000294658] Chr21:34512211 [GRCh38]
Chr21:35884509 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.*1556G>A single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000398346]|Long QT syndrome 5 [RCV000287119]|Romano-Ward syndrome [RCV000335018] Chr21:34447689 [GRCh38]
Chr21:35819987 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.*1447C>G single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000390946]|Long QT syndrome 5 [RCV000313094]|Romano-Ward syndrome [RCV000370146] Chr21:34447798 [GRCh38]
Chr21:35820096 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.*995G>C single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000360216]|Long QT syndrome 5 [RCV000267592]|Romano-Ward syndrome [RCV000296916] Chr21:34448250 [GRCh38]
Chr21:35820548 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.*2007= single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000392803]|Long QT syndrome 5 [RCV000352806]|Romano-Ward syndrome [RCV000308548] Chr21:34447238 [GRCh38]
Chr21:35819536 [GRCh37]
Chr21:21q22.12
benign
NM_000219.5(KCNE1):c.-628A>G single nucleotide variant Jervell and Lange-Nielsen syndrome [RCV000263760]|Long QT syndrome [RCV000372373]|Romano-Ward syndrome [RCV000319002] Chr21:34512278 [GRCh38]
Chr21:35884576 [GRCh37]
Chr21:21q22.12
likely benign
NM_000219.6(KCNE1):c.86G>A (p.Gly29Asp) single nucleotide variant not provided [RCV000522131] Chr21:34449549 [GRCh38]
Chr21:35821847 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.-225G>C single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000309237]|Long QT syndrome 5 [RCV000273241]|Romano-Ward syndrome [RCV000363941] Chr21:34511164 [GRCh38]
Chr21:35883462 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.*1701A>G single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000367226]|Long QT syndrome 5 [RCV000403460]|Romano-Ward syndrome [RCV000300816] Chr21:34447544 [GRCh38]
Chr21:35819842 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.*1583A>C single nucleotide variant Jervell and Lange-Nielsen syndrome [RCV000384908]|Long QT syndrome [RCV000269054]|Romano-Ward syndrome [RCV000328021] Chr21:34447662 [GRCh38]
Chr21:35819960 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.292del (p.Arg98fs) deletion not provided [RCV000599534] Chr21:34449343 [GRCh38]
Chr21:35821641 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.315G>A (p.Ser105=) single nucleotide variant Cardiovascular phenotype [RCV000621004]|Long QT syndrome [RCV001477209]|not provided [RCV000866153]|not specified [RCV000609070] Chr21:34449320 [GRCh38]
Chr21:35821618 [GRCh37]
Chr21:21q22.12
benign|likely benign
NM_000219.6(KCNE1):c.173C>T (p.Thr58Ile) single nucleotide variant Long QT syndrome [RCV000539512]|Primary dilated cardiomyopathy [RCV000852543]|not provided [RCV000414735]|not specified [RCV001002520] Chr21:34449462 [GRCh38]
Chr21:35821760 [GRCh37]
Chr21:21q22.12
likely pathogenic|uncertain significance
NM_000219.6(KCNE1):c.166_180del (p.Phe56_Gly60del) deletion Long QT syndrome 5 [RCV000735249] Chr21:34449455..34449469 [GRCh38]
Chr21:35821753..35821767 [GRCh37]
Chr21:21q22.12
likely pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-43598570)x3 copy number gain See cases [RCV000446716] Chr21:15006457..43598570 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NM_000219.6(KCNE1):c.189G>A (p.Leu63=) single nucleotide variant not specified [RCV000427350] Chr21:34449446 [GRCh38]
Chr21:35821744 [GRCh37]
Chr21:21q22.12
likely benign
NM_000219.6(KCNE1):c.-162+13G>A single nucleotide variant not specified [RCV000437680] Chr21:34511088 [GRCh38]
Chr21:35883386 [GRCh37]
Chr21:21q22.12
likely benign
NM_000219.6(KCNE1):c.113G>A (p.Ser38Asn) single nucleotide variant not specified [RCV000427530] Chr21:34449522 [GRCh38]
Chr21:35821820 [GRCh37]
Chr21:21q22.12
likely benign
NM_000219.6(KCNE1):c.-118A>C single nucleotide variant not specified [RCV000427538] Chr21:34458721 [GRCh38]
Chr21:35831019 [GRCh37]
Chr21:21q22.12
likely benign
NM_000219.6(KCNE1):c.42C>T (p.Thr14=) single nucleotide variant not specified [RCV000434930] Chr21:34449593 [GRCh38]
Chr21:35821891 [GRCh37]
Chr21:21q22.12
likely benign
NM_000219.6(KCNE1):c.225C>T (p.Asn75=) single nucleotide variant Long QT syndrome [RCV000868497]|not specified [RCV000439054] Chr21:34449410 [GRCh38]
Chr21:35821708 [GRCh37]
Chr21:21q22.12
likely benign
NM_000219.6(KCNE1):c.8T>C (p.Leu3Pro) single nucleotide variant Long QT syndrome [RCV001497881]|not provided [RCV000862628]|not specified [RCV000434020] Chr21:34449627 [GRCh38]
Chr21:35821925 [GRCh37]
Chr21:21q22.12
likely benign
NM_000219.6(KCNE1):c.-162+12G>A single nucleotide variant not specified [RCV000437583] Chr21:34511089 [GRCh38]
Chr21:35883387 [GRCh37]
Chr21:21q22.12
likely benign
GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)x3 copy number gain See cases [RCV000448874] Chr21:29812033..39282854 [GRCh37]
Chr21:21q21.3-22.13
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 copy number gain See cases [RCV000447884] Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-44827632)x3 copy number gain See cases [RCV000448199] Chr21:15006457..44827632 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 copy number gain See cases [RCV000447729] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NM_000219.6(KCNE1):c.32C>G (p.Pro11Arg) single nucleotide variant Long QT syndrome [RCV000461187] Chr21:34449603 [GRCh38]
Chr21:35821901 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.200G>T (p.Arg67Leu) single nucleotide variant not provided [RCV000482361] Chr21:34449435 [GRCh38]
Chr21:35821733 [GRCh37]
Chr21:21q22.12
likely pathogenic
NM_000219.6(KCNE1):c.221C>G (p.Ser74Trp) single nucleotide variant Long QT syndrome [RCV000468164] Chr21:34449414 [GRCh38]
Chr21:35821712 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.-161-8A>G single nucleotide variant not provided [RCV000485424] Chr21:34458772 [GRCh38]
Chr21:35831070 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.217C>T (p.His73Tyr) single nucleotide variant not provided [RCV000485473] Chr21:34449418 [GRCh38]
Chr21:35821716 [GRCh37]
Chr21:21q22.12
likely pathogenic
NM_000219.6(KCNE1):c.127G>A (p.Glu43Lys) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000852544]|Long QT syndrome [RCV000477286] Chr21:34449508 [GRCh38]
Chr21:35821806 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.112_113delinsGA (p.Ser38Asp) indel not specified [RCV000478086] Chr21:34449522..34449523 [GRCh38]
Chr21:35821820..35821821 [GRCh37]
Chr21:21q22.12
likely benign
GRCh37/hg19 21q22.11-22.12(chr21:35734654-35905168)x3 copy number gain not provided [RCV000509264] Chr21:35734654..35905168 [GRCh37]
Chr21:21q22.11-22.12
not provided
GRCh37/hg19 21q22.11-22.12(chr21:35734654-35908414)x3 copy number gain not provided [RCV000509332] Chr21:35734654..35908414 [GRCh37]
Chr21:21q22.11-22.12
not provided
NM_000219.6(KCNE1):c.273C>G (p.Asp91Glu) single nucleotide variant Hypertrophic cardiomyopathy [RCV000498729] Chr21:34449362 [GRCh38]
Chr21:35821660 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.227_229delinsTCTA (p.Asp76fs) indel Long QT syndrome [RCV000631568]|not provided [RCV000509561]|not specified [RCV000519587] Chr21:34449406..34449408 [GRCh38]
Chr21:35821704..35821706 [GRCh37]
Chr21:21q22.12
uncertain significance|not provided
NM_000219.6(KCNE1):c.12dup (p.Asn5Ter) duplication Long QT syndrome [RCV000694374]|not provided [RCV000493904] Chr21:34449622..34449623 [GRCh38]
Chr21:35821920..35821921 [GRCh37]
Chr21:21q22.12
pathogenic|likely pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NM_000219.6(KCNE1):c.-5C>A single nucleotide variant Cardiovascular phenotype [RCV000617837]|Jervell and Lange-Nielsen syndrome 2 [RCV001139933]|Long QT syndrome 5 [RCV001139932]|not specified [RCV000607041] Chr21:34449639 [GRCh38]
Chr21:35821937 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.139G>A (p.Val47Ile) single nucleotide variant Cardiomyopathy [RCV000852955]|Long QT syndrome [RCV000631784] Chr21:34449496 [GRCh38]
Chr21:35821794 [GRCh37]
Chr21:21q22.12
benign
NM_000219.6(KCNE1):c.202_205del (p.Ser68fs) deletion Long QT syndrome [RCV000631716] Chr21:34449430..34449433 [GRCh38]
Chr21:35821728..35821731 [GRCh37]
Chr21:21q22.12
likely pathogenic
NM_000219.6(KCNE1):c.189G>T (p.Leu63=) single nucleotide variant Long QT syndrome [RCV000631826] Chr21:34449446 [GRCh38]
Chr21:35821744 [GRCh37]
Chr21:21q22.12
likely benign
NM_000219.6(KCNE1):c.106C>T (p.Arg36Cys) single nucleotide variant Cardiovascular phenotype [RCV000619059] Chr21:34449529 [GRCh38]
Chr21:35821827 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.37C>T (p.Leu13=) single nucleotide variant Cardiovascular phenotype [RCV000619433] Chr21:34449598 [GRCh38]
Chr21:35821896 [GRCh37]
Chr21:21q22.12
likely benign
GRCh37/hg19 21q22.11-22.12(chr21:35726628-35905168)x3 copy number gain not provided [RCV000585397] Chr21:35726628..35905168 [GRCh37]
Chr21:21q22.11-22.12
likely benign
NM_000219.6(KCNE1):c.118G>A (p.Gly40Ser) single nucleotide variant Long QT syndrome [RCV001461605]|not provided [RCV000631757] Chr21:34449517 [GRCh38]
Chr21:35821815 [GRCh37]
Chr21:21q22.12
likely benign
NM_000219.6(KCNE1):c.138C>T (p.Tyr46=) single nucleotide variant not provided [RCV000631776] Chr21:34449497 [GRCh38]
Chr21:35821795 [GRCh37]
Chr21:21q22.12
likely benign
NM_000219.6(KCNE1):c.9G>A (p.Leu3=) single nucleotide variant Cardiovascular phenotype [RCV000620937] Chr21:34449626 [GRCh38]
Chr21:35821924 [GRCh37]
Chr21:21q22.12
likely benign
GRCh37/hg19 21q22.11-22.12(chr21:35726225-35906612)x3 copy number gain See cases [RCV000512317] Chr21:35726225..35906612 [GRCh37]
Chr21:21q22.11-22.12
uncertain significance
NM_000219.6(KCNE1):c.50G>A (p.Trp17Ter) single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV000659248] Chr21:34449585 [GRCh38]
Chr21:35821883 [GRCh37]
Chr21:21q22.12
pathogenic
GRCh37/hg19 21q22.11-22.12(chr21:35717016-35904974)x3 copy number gain not provided [RCV000684136] Chr21:35717016..35904974 [GRCh37]
Chr21:21q22.11-22.12
likely benign
GRCh37/hg19 21q22.11-22.12(chr21:35313088-36864916)x3 copy number gain not provided [RCV000684159] Chr21:35313088..36864916 [GRCh37]
Chr21:21q22.11-22.12
uncertain significance
GRCh37/hg19 21q22.11-22.2(chr21:33980213-42542987)x3 copy number gain not provided [RCV000684166] Chr21:33980213..42542987 [GRCh37]
Chr21:21q22.11-22.2
pathogenic
NM_000219.6(KCNE1):c.359C>T (p.Thr120Ile) single nucleotide variant Long QT syndrome [RCV000700287] Chr21:34449276 [GRCh38]
Chr21:35821574 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.334_342dup (p.His112_Ala114dup) duplication Long QT syndrome [RCV000707299] Chr21:34449292..34449293 [GRCh38]
Chr21:35821590..35821591 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.208A>C (p.Lys70Gln) single nucleotide variant Long QT syndrome [RCV000688892] Chr21:34449427 [GRCh38]
Chr21:35821725 [GRCh37]
Chr21:21q22.12
uncertain significance
NC_000021.8:g.(?_35742772)_(36421202_?)del deletion Long QT syndrome 6 [RCV000708545] Chr21:35742772..36421202 [GRCh37]
Chr21:21q22.11-22.12
uncertain significance
NM_000219.6(KCNE1):c.292C>A (p.Arg98=) single nucleotide variant Long QT syndrome [RCV001394488] Chr21:34449343 [GRCh38]
Chr21:35821641 [GRCh37]
Chr21:21q22.12
likely benign
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 copy number gain not provided [RCV000741419] Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q22.11-22.12(chr21:35724739-35900759)x3 copy number gain not provided [RCV000741543] Chr21:35724739..35900759 [GRCh37]
Chr21:21q22.11-22.12
benign
GRCh37/hg19 21q22.11-22.12(chr21:35724739-35904697)x3 copy number gain not provided [RCV000741544] Chr21:35724739..35904697 [GRCh37]
Chr21:21q22.11-22.12
benign
GRCh37/hg19 21q22.11-22.12(chr21:35724739-35907413)x3 copy number gain not provided [RCV000741545] Chr21:35724739..35907413 [GRCh37]
Chr21:21q22.11-22.12
benign
GRCh37/hg19 21q22.11-22.12(chr21:35725651-35904053)x3 copy number gain not provided [RCV000741546] Chr21:35725651..35904053 [GRCh37]
Chr21:21q22.11-22.12
benign
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 copy number gain not provided [RCV000741413] Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 copy number gain not provided [RCV000741418] Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
NM_000219.6(KCNE1):c.268A>T (p.Lys90Ter) single nucleotide variant not provided [RCV000760772] Chr21:34449367 [GRCh38]
Chr21:35821665 [GRCh37]
Chr21:21q22.12
likely pathogenic
NM_000219.6(KCNE1):c.314C>T (p.Ser105Leu) single nucleotide variant Long QT syndrome [RCV001051089]|none provided [RCV001289618] Chr21:34449321 [GRCh38]
Chr21:35821619 [GRCh37]
Chr21:21q22.12
likely benign|uncertain significance
NM_000219.6(KCNE1):c.237C>T (p.Asn79=) single nucleotide variant not provided [RCV000874923] Chr21:34449398 [GRCh38]
Chr21:35821696 [GRCh37]
Chr21:21q22.12
likely benign
NM_000219.6(KCNE1):c.-50-59T>C single nucleotide variant not provided [RCV000832600] Chr21:34449743 [GRCh38]
Chr21:35822041 [GRCh37]
Chr21:21q22.12
likely benign
NM_000219.6(KCNE1):c.142C>A (p.Leu48Ile) single nucleotide variant Long QT syndrome [RCV000809566] Chr21:34449493 [GRCh38]
Chr21:35821791 [GRCh37]
Chr21:21q22.12
uncertain significance
GRCh37/hg19 21q22.11-22.12(chr21:35725728-35906868)x3 copy number gain not provided [RCV000847667] Chr21:35725728..35906868 [GRCh37]
Chr21:21q22.11-22.12
uncertain significance
NM_000219.6(KCNE1):c.-50-288A>G single nucleotide variant Long QT syndrome [RCV001511448]|not provided [RCV000834970] Chr21:34449972 [GRCh38]
Chr21:35822270 [GRCh37]
Chr21:21q22.12
benign
GRCh37/hg19 21q22.11-22.12(chr21:35725728-35906042)x3 copy number gain not provided [RCV000849964] Chr21:35725728..35906042 [GRCh37]
Chr21:21q22.11-22.12
uncertain significance
NC_000021.8:g.(?_35736455)_(35821942_?)dup duplication Long QT syndrome 6 [RCV001346940]|Long QT syndrome [RCV000824661] Chr21:35736455..35821942 [GRCh37]
Chr21:21q22.11-22.12
uncertain significance
NM_000219.6(KCNE1):c.199C>G (p.Arg67Gly) single nucleotide variant Long QT syndrome [RCV000798265] Chr21:34449436 [GRCh38]
Chr21:35821734 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.252C>T (p.Ser84=) single nucleotide variant Long QT syndrome [RCV000875431]|not specified [RCV000825175] Chr21:34449383 [GRCh38]
Chr21:35821681 [GRCh37]
Chr21:21q22.12
likely benign
NM_000219.6(KCNE1):c.-50-129T>C single nucleotide variant not provided [RCV000831111] Chr21:34449813 [GRCh38]
Chr21:35822111 [GRCh37]
Chr21:21q22.12
benign
NM_000219.6(KCNE1):c.4A>T (p.Ile2Phe) single nucleotide variant Long QT syndrome [RCV000800190] Chr21:34449631 [GRCh38]
Chr21:35821929 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.110G>A (p.Ser37Asn) single nucleotide variant Long QT syndrome [RCV000823043] Chr21:34449525 [GRCh38]
Chr21:35821823 [GRCh37]
Chr21:21q22.12
uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV000846937] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.11-22.12(chr21:35716793-35906868)x3 copy number gain not provided [RCV000845977] Chr21:35716793..35906868 [GRCh37]
Chr21:21q22.11-22.12
uncertain significance
GRCh37/hg19 21q22.11-22.12(chr21:35716793-35900319)x3 copy number gain not provided [RCV000849746] Chr21:35716793..35900319 [GRCh37]
Chr21:21q22.11-22.12
uncertain significance
NC_000021.8:g.35304341_36865875del deletion Thrombocytopenia [RCV001003847] Chr21:35304341..36865875 [GRCh37]
Chr21:21q22.11-22.12
likely pathogenic
NC_000021.8:g.35304355_36865958del deletion Thrombocytopenia [RCV001003848] Chr21:35304355..36865958 [GRCh37]
Chr21:21q22.11-22.12
likely pathogenic
NM_000219.6(KCNE1):c.120C>T (p.Gly40=) single nucleotide variant Long QT syndrome [RCV001237638] Chr21:34449515 [GRCh38]
Chr21:35821813 [GRCh37]
Chr21:21q22.12
uncertain significance
GRCh37/hg19 21q22.11-22.12(chr21:35298070-36876005)x1 copy number loss not provided [RCV000846552] Chr21:35298070..36876005 [GRCh37]
Chr21:21q22.11-22.12
pathogenic
NM_000219.6(KCNE1):c.347A>C (p.Glu116Ala) single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV001142454]|Long QT syndrome 5 [RCV001142453] Chr21:34449288 [GRCh38]
Chr21:35821586 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.*278A>T single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV001139821]|Long QT syndrome 5 [RCV001139822] Chr21:34448967 [GRCh38]
Chr21:35821265 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.*2298C>G single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV001140282]|Long QT syndrome 5 [RCV001140281] Chr21:34446947 [GRCh38]
Chr21:35819245 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.*2206G>A single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV001140283]|Long QT syndrome 5 [RCV001140284] Chr21:34447039 [GRCh38]
Chr21:35819337 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.*960C>T single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV001140487]|Long QT syndrome 5 [RCV001140488] Chr21:34448285 [GRCh38]
Chr21:35820583 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.*2475A>G single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV001137270]|Long QT syndrome 5 [RCV001137269] Chr21:34446770 [GRCh38]
Chr21:35819068 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.*1542G>A single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV001142242]|Long QT syndrome 5 [RCV001142241] Chr21:34447703 [GRCh38]
Chr21:35820001 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.222G>A (p.Ser74=) single nucleotide variant Long QT syndrome [RCV000865921] Chr21:34449413 [GRCh38]
Chr21:35821711 [GRCh37]
Chr21:21q22.12
likely benign
NM_000219.6(KCNE1):c.335A>G (p.His112Arg) single nucleotide variant Long QT syndrome 5 [RCV000853592] Chr21:34449300 [GRCh38]
Chr21:35821598 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.327T>G (p.Val109=) single nucleotide variant Long QT syndrome [RCV001462668]|not provided [RCV000931120] Chr21:34449308 [GRCh38]
Chr21:35821606 [GRCh37]
Chr21:21q22.12
likely benign
NM_000219.6(KCNE1):c.*1078G>A single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV001139715]|Long QT syndrome 5 [RCV001139716] Chr21:34448167 [GRCh38]
Chr21:35820465 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.*1857G>A single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV001139623]|Long QT syndrome 5 [RCV001139624] Chr21:34447388 [GRCh38]
Chr21:35819686 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.-531C>T single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV001142667]|Long QT syndrome 5 [RCV001142668] Chr21:34512181 [GRCh38]
Chr21:35884479 [GRCh37]
Chr21:21q22.12
likely benign
GRCh37/hg19 21q22.11-22.12(chr21:33205064-36039022) copy number loss 21q22.11q22.12 microdeletion syndrome [RCV001093501] Chr21:33205064..36039022 [GRCh37]
Chr21:21q22.11-22.12
pathogenic
NM_000219.6(KCNE1):c.*2393C>T single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV001139519]|Long QT syndrome 5 [RCV001139518] Chr21:34446852 [GRCh38]
Chr21:35819150 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.*1539C>A single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV001142243]|Long QT syndrome 5 [RCV001142244] Chr21:34447706 [GRCh38]
Chr21:35820004 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.-521G>A single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV001140818]|Long QT syndrome 5 [RCV001140817] Chr21:34512171 [GRCh38]
Chr21:35884469 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.94dup (p.Arg32fs) duplication Hereditary hearing loss and deafness [RCV001003417] Chr21:34449540..34449541 [GRCh38]
Chr21:35821838..35821839 [GRCh37]
Chr21:21q22.12
pathogenic
NM_000219.6(KCNE1):c.159C>A (p.Phe53Leu) single nucleotide variant Long QT syndrome [RCV001038946] Chr21:34449476 [GRCh38]
Chr21:35821774 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.*1290G>A single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV001137502]|Long QT syndrome 5 [RCV001137503] Chr21:34447955 [GRCh38]
Chr21:35820253 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.*375C>T single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV001137593]|Long QT syndrome 5 [RCV001137594] Chr21:34448870 [GRCh38]
Chr21:35821168 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.-334G>A single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV001140061]|Long QT syndrome 5 [RCV001140060] Chr21:34511273 [GRCh38]
Chr21:35883571 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.179G>A (p.Gly60Asp) single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV001258144]|Long QT syndrome [RCV001059728] Chr21:34449456 [GRCh38]
Chr21:35821754 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.*366A>C single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV001139819]|Long QT syndrome 5 [RCV001139820] Chr21:34448879 [GRCh38]
Chr21:35821177 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.*2123G>A single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV001142121]|Long QT syndrome 5 [RCV001142122] Chr21:34447122 [GRCh38]
Chr21:35819420 [GRCh37]
Chr21:21q22.12
benign
NM_000219.6(KCNE1):c.-170C>T single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV001142571]|Long QT syndrome 5 [RCV001142570] Chr21:34511109 [GRCh38]
Chr21:35883407 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.-24A>G single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV001140693]|Long QT syndrome 5 [RCV001140692] Chr21:34449658 [GRCh38]
Chr21:35821956 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.-198C>T single nucleotide variant Jervell and Lange-Nielsen syndrome 2 [RCV001142572]|Long QT syndrome 5 [RCV001142573] Chr21:34511137 [GRCh38]
Chr21:35883435 [GRCh37]
Chr21:21q22.12
benign
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3 copy number gain See cases [RCV001263025] Chr21:14629063..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NM_000219.6(KCNE1):c.208A>G (p.Lys70Glu) single nucleotide variant Long QT syndrome [RCV001339189] Chr21:34449427 [GRCh38]
Chr21:35821725 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.283G>A (p.Val95Ile) single nucleotide variant Long QT syndrome [RCV001342391] Chr21:34449352 [GRCh38]
Chr21:35821650 [GRCh37]
Chr21:21q22.12
uncertain significance
NC_000021.8:g.(?_32439271)_(37133458_?)dup duplication Parkinson disease 20, early-onset [RCV001338842] Chr21:32439271..37133458 [GRCh37]
Chr21:21q22.11-22.12
uncertain significance
NM_000219.6(KCNE1):c.264A>G (p.Gln88=) single nucleotide variant Long QT syndrome [RCV001340286] Chr21:34449371 [GRCh38]
Chr21:35821669 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.211C>G (p.Leu71Val) single nucleotide variant Long QT syndrome [RCV001318944] Chr21:34449424 [GRCh38]
Chr21:35821722 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.142C>T (p.Leu48Phe) single nucleotide variant Long QT syndrome [RCV001369414] Chr21:34449493 [GRCh38]
Chr21:35821791 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.220T>C (p.Ser74Pro) single nucleotide variant not provided [RCV001509078]|not specified [RCV001449768] Chr21:34449415 [GRCh38]
Chr21:35821713 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.256G>A (p.Ala86Thr) single nucleotide variant Long QT syndrome [RCV001304097] Chr21:34449379 [GRCh38]
Chr21:35821677 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.79A>G (p.Met27Val) single nucleotide variant Long QT syndrome [RCV001367561] Chr21:34449556 [GRCh38]
Chr21:35821854 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.277G>A (p.Ala93Thr) single nucleotide variant Long QT syndrome [RCV001296331] Chr21:34449358 [GRCh38]
Chr21:35821656 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.380C>T (p.Pro127Leu) single nucleotide variant Long QT syndrome [RCV001319612] Chr21:34449255 [GRCh38]
Chr21:35821553 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.31C>A (p.Pro11Thr) single nucleotide variant Long QT syndrome [RCV001315355] Chr21:34449604 [GRCh38]
Chr21:35821902 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.370_385del (p.Glu124fs) deletion Long QT syndrome [RCV001365528] Chr21:34449250..34449265 [GRCh38]
Chr21:35821548..35821563 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.80T>C (p.Met27Thr) single nucleotide variant Long QT syndrome [RCV001365642] Chr21:34449555 [GRCh38]
Chr21:35821853 [GRCh37]
Chr21:21q22.12
uncertain significance
NM_000219.6(KCNE1):c.117C>T (p.Asp39=) single nucleotide variant Long QT syndrome [RCV001454109] Chr21:34449518 [GRCh38]
Chr21:35821816 [GRCh37]
Chr21:21q22.12
likely benign
NM_000219.6(KCNE1):c.39G>C (p.Leu13=) single nucleotide variant Long QT syndrome [RCV001440739] Chr21:34449596 [GRCh38]
Chr21:35821894 [GRCh37]
Chr21:21q22.12
likely benign
NM_000219.6(KCNE1):c.1A>T (p.Met1Leu) single nucleotide variant Long QT syndrome [RCV001376771] Chr21:34449634 [GRCh38]
Chr21:35821932 [GRCh37]
Chr21:21q22.12
likely pathogenic
NM_000219.6(KCNE1):c.324C>T (p.Val108=) single nucleotide variant Long QT syndrome [RCV001499686] Chr21:34449311 [GRCh38]
Chr21:35821609 [GRCh37]
Chr21:21q22.12
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6240 AgrOrtholog
COSMIC KCNE1 COSMIC
Ensembl Genes ENSG00000180509 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000337255 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000382225 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000382226 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000382228 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000412498 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000416258 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000478215 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000483895 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000337385 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000399284 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000399286 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000399289 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000416357 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000432085 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000611936 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000621601 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000180509 GTEx
HGNC ID HGNC:6240 ENTREZGENE
Human Proteome Map KCNE1 Human Proteome Map
InterPro K_chnl_KCNE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_bsu_KCNE1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3753 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3753 ENTREZGENE
OMIM 176261 OMIM
  612347 OMIM
  613695 OMIM
PANTHER PTHR15282 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ISK_Channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB KCNE1 RGD, PharmGKB
PRINTS KCNE1CHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KCNECHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A7LFK2 ENTREZGENE, UniProtKB/TrEMBL
  A7LFK4 ENTREZGENE, UniProtKB/TrEMBL
  C7S316 ENTREZGENE, UniProtKB/TrEMBL
  KCNE1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5DI96_HUMAN UniProtKB/TrEMBL
  Q6FHJ6 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A5H1P2 UniProtKB/Swiss-Prot
  Q8N709 UniProtKB/Swiss-Prot
  Q91Z94 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 KCNE1  potassium voltage-gated channel subfamily E regulatory subunit 1    potassium channel, voltage gated subfamily E regulatory beta subunit 1  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNE1  potassium channel, voltage gated subfamily E regulatory beta subunit 1    potassium voltage-gated channel, Isk-related family, member 1  Symbol and/or name change 5135510 APPROVED
2011-08-16 KCNE1  potassium voltage-gated channel, Isk-related family, member 1  KCNE1  potassium voltage-gated channel, Isk-related family, member 1  Symbol and/or name change 5135510 APPROVED