Gene entry
KCNQ1
potassium voltage-gated channel subfamily Q member 1
- Chromosome
- 11
- Cytoband
- 11p15.5-p15.4
- Variants (rsID)
- 289
KCNQ1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11p15.5-p15.4). Its official name is “potassium voltage-gated channel subfamily Q member 1”. The reference table lists 289 variants (rsID) for this gene.
Clinically classified variants
131 reference-table entries with clinical significance.
- rs11601907Benignsingle nucleotide variantCardiovascular phenotype|Short QT syndrome type 2|Jervell and Lange-Nielsen syndrome 1|Atrial fibrillation, familial, 3|Congenital long QT syndrome|Long QT syndrome|Long QT syndrome 1|Cardiac arrhythmia
- rs104894255Conflicting interpretationssingle nucleotide variantCongenital long QT syndrome|Long QT syndrome
- rs1064796353Conflicting interpretationsDeletionLong QT syndrome
- rs112113213Conflicting interpretationssingle nucleotide variantLong QT syndrome|Atrial fibrillation, familial, 3|Cardiovascular phenotype|Jervell and Lange-Nielsen syndrome 1|Short QT syndrome type 2|Long QT syndrome 1|Cardiac arrhythmia
- rs120074187Conflicting interpretationssingle nucleotide variantLong QT syndrome 1|Long QT syndrome|Cardiovascular phenotype|Atrial fibrillation, familial, 3|Short QT syndrome type 2|Jervell and Lange-Nielsen syndrome 1|Cardiac arrhythmia
- rs120074188Conflicting interpretationssingle nucleotide variantLong QT syndrome 1, recessive|Congenital long QT syndrome|Cardiovascular phenotype|Long QT syndrome
- rs12720457Conflicting interpretationssingle nucleotide variantLong QT syndrome|Jervell and Lange-Nielsen syndrome 1|Atrial fibrillation, familial, 3|Congenital long QT syndrome|Short QT syndrome type 2|Cardiomyopathy|Long QT syndrome 1|Cardiac arrhythmia
- rs12720458Conflicting interpretationssingle nucleotide variantLong QT syndrome|Congenital long QT syndrome|Long QT syndrome 1|Jervell and Lange-Nielsen syndrome 1|Atrial fibrillation, familial, 3|Beckwith-Wiedemann syndrome|Short QT syndrome type 2|13 conditions|Long QT syndrome 1|Cardiac arrhythmia
- rs1325525794Conflicting interpretationssingle nucleotide variantLong QT syndrome 1|Long QT syndrome
- rs138362632Conflicting interpretationssingle nucleotide variantLong QT syndrome|Cardiovascular phenotype|Cardiac arrhythmia
- rs140452381Conflicting interpretationssingle nucleotide variantCongenital long QT syndrome|Long QT syndrome|Cardiovascular phenotype|Long QT syndrome 1|Jervell and Lange-Nielsen syndrome 1|Atrial fibrillation, familial, 3|Beckwith-Wiedemann syndrome|Short QT syndrome type 2|Long QT syndrome 1|Cardiac arrhythmia
- rs147445322Conflicting interpretationssingle nucleotide variantCongenital long QT syndrome|Long QT syndrome|Long QT syndrome 1|Cardiac arrhythmia
- rs17215479Conflicting interpretationssingle nucleotide variantCongenital long QT syndrome|Long QT syndrome
- rs17221854Conflicting interpretationssingle nucleotide variantAcquired susceptibility to long QT syndrome 1|Long QT syndrome 1|Congenital long QT syndrome|Jervell and Lange-Nielsen syndrome 1|Long QT syndrome 1|Beckwith-Wiedemann syndrome|Atrial fibrillation, familial, 3|Short QT syndrome type 2|KCNQ1-Related Disorders|Long QT syndrome
- rs199472677Conflicting interpretationssingle nucleotide variantLong QT syndrome
- rs199472708Conflicting interpretationssingle nucleotide variantCongenital long QT syndrome|Atrial fibrillation, familial, 3|Long QT syndrome
- rs199472728Conflicting interpretationssingle nucleotide variantCongenital long QT syndrome|SUDDEN INFANT DEATH SYNDROME|Long QT syndrome|Long QT syndrome 1|Jervell and Lange-Nielsen syndrome 1|Atrial fibrillation, familial, 3|Short QT syndrome type 2|Cardiac arrhythmia
- rs199472737Conflicting interpretationssingle nucleotide variantCongenital long QT syndrome|Long QT syndrome|Cardiovascular phenotype|Long QT syndrome 1|Atrial fibrillation, familial, 3|Cardiac arrhythmia
- rs199472775Conflicting interpretationssingle nucleotide variantCongenital long QT syndrome|Long QT syndrome|Cardiac arrhythmia
- rs199472776Conflicting interpretationssingle nucleotide variantCongenital long QT syndrome|Long QT syndrome|Long QT syndrome 1|Jervell and Lange-Nielsen syndrome|Short QT syndrome|Familial atrial fibrillation|Wolff-Parkinson-White pattern|Cardiovascular phenotype|Cardiac arrhythmia
- rs199472804Conflicting interpretationssingle nucleotide variantLong QT syndrome|Congenital long QT syndrome
- rs199473451Conflicting interpretationssingle nucleotide variantCongenital long QT syndrome|Long QT syndrome|Cardiovascular phenotype
- rs201682200Conflicting interpretationssingle nucleotide variantJervell and Lange-Nielsen syndrome 1|Atrial fibrillation, familial, 3|Congenital long QT syndrome|Long QT syndrome|Short QT syndrome type 2|Long QT syndrome 1|Cardiac arrhythmia
- rs34516117Conflicting interpretationssingle nucleotide variantCongenital long QT syndrome|Long QT syndrome|Cardiovascular phenotype|Cardiac arrhythmia
- rs368507376Conflicting interpretationssingle nucleotide variant
- rs750409379Conflicting interpretationssingle nucleotide variantLong QT syndrome 1|Long QT syndrome|Cardiac arrhythmia
- rs764781840Conflicting interpretationssingle nucleotide variantLong QT syndrome
- rs779383393Conflicting interpretationssingle nucleotide variantLong QT syndrome 1|Long QT syndrome
- rs794728512Conflicting interpretationssingle nucleotide variantLong QT syndrome 1|Long QT syndrome
- rs794728520Conflicting interpretationssingle nucleotide variantLong QT syndrome
- rs794728532Conflicting interpretationssingle nucleotide variantLong QT syndrome
- rs794728534Conflicting interpretationssingle nucleotide variant
- rs794728559Conflicting interpretationsDuplicationLong QT syndrome
- rs267607197Likely benignsingle nucleotide variantCardiac arrhythmia
- rs75813654Likely benignsingle nucleotide variantLong QT syndrome|Cardiac arrhythmia
- rs1064794538Likely pathogenicDeletion
- rs120074191Likely pathogenicsingle nucleotide variantLong QT syndrome 1|Congenital long QT syndrome|Long QT syndrome
- rs199472758Likely pathogenicsingle nucleotide variantLong QT syndrome|Congenital long QT syndrome
- rs76737438Likely pathogenicsingle nucleotide variant
- rs794728511Likely pathogenicsingle nucleotide variant
- rs794728513Likely pathogenicsingle nucleotide variant
- rs794728514Likely pathogenicsingle nucleotide variant
- rs794728519Likely pathogenicsingle nucleotide variant
- rs794728523Likely pathogenicsingle nucleotide variant
- rs794728524Likely pathogenicsingle nucleotide variantLong QT syndrome
- rs794728528Likely pathogenicsingle nucleotide variantCardiac arrhythmia
- rs794728555Likely pathogenicMicrosatellite
- rs794728565Likely pathogenicDeletionCongenital long QT syndrome|Jervell and Lange-Nielsen syndrome
- rs794728576Likely pathogenicsingle nucleotide variant
- rs794728578Likely pathogenicsingle nucleotide variant
- rs796052166Likely pathogenicsingle nucleotide variantLong QT syndrome
- rs886037906Likely pathogenicsingle nucleotide variantLong QT syndrome 1
- rs104894252Pathogenicsingle nucleotide variantLong QT syndrome 1|Congenital long QT syndrome|Long QT syndrome
- rs1060500628Pathogenicsingle nucleotide variantLong QT syndrome
- rs1060500629Pathogenicsingle nucleotide variantLong QT syndrome
- rs1064795333PathogenicMicrosatelliteLong QT syndrome
- rs120074180Pathogenicsingle nucleotide variantLong QT syndrome 1|Congenital long QT syndrome|Cardiovascular phenotype|Long QT syndrome
- rs120074182Pathogenicsingle nucleotide variantLong QT syndrome 1|Congenital long QT syndrome|Long QT syndrome|Cardiac arrhythmia
- rs120074183Pathogenicsingle nucleotide variantLong QT syndrome 1|Congenital long QT syndrome
- rs120074185Pathogenicsingle nucleotide variantLong QT syndrome 1|Long QT syndrome|Congenital long QT syndrome|Cardiovascular phenotype|Prolonged QT interval|Cardiac arrhythmia
- rs120074186Pathogenicsingle nucleotide variantJervell and Lange-Nielsen syndrome 1|Congenital long QT syndrome|Cardiovascular phenotype|Long QT syndrome
- rs120074189Pathogenicsingle nucleotide variantJervell and Lange-Nielsen syndrome 1|Long QT syndrome|Congenital long QT syndrome|Cardiovascular phenotype
- rs120074190Pathogenicsingle nucleotide variantLong QT syndrome 1|Jervell and Lange-Nielsen syndrome 1|Congenital long QT syndrome|Cardiovascular phenotype|Long QT syndrome|Long QT syndrome 1|Jervell and Lange-Nielsen syndrome 1|Cardiac arrhythmia
- rs120074192Pathogenicsingle nucleotide variantAtrial fibrillation, familial, 3|Atrial fibrillation
- rs120074193Pathogenicsingle nucleotide variantLong QT syndrome 1|Congenital long QT syndrome|Long QT syndrome|Jervell and Lange-Nielsen syndrome 1|Long QT syndrome 1|Beckwith-Wiedemann syndrome|Short QT syndrome type 2|Atrial fibrillation, familial, 3
- rs120074194Pathogenicsingle nucleotide variantLong QT syndrome 1|Long QT syndrome|Congenital long QT syndrome
- rs120074196Pathogenicsingle nucleotide variantLong QT syndrome 1/2, digenic|Congenital long QT syndrome
- rs1222477763Pathogenicsingle nucleotide variant
- rs138551008Pathogenicsingle nucleotide variantLong QT syndrome
- rs139042529Pathogenicsingle nucleotide variantLong QT syndrome
- rs151344631Pathogenicsingle nucleotide variantLong QT syndrome 1|Congenital long QT syndrome|Long QT syndrome|Cardiovascular phenotype
- rs199472702Pathogenicsingle nucleotide variantCongenital long QT syndrome|Cardiovascular phenotype|Long QT syndrome
- rs199472705Pathogenicsingle nucleotide variantAtrial fibrillation|Atrial fibrillation, familial, 3|Long QT syndrome
- rs199472710Pathogenicsingle nucleotide variantCongenital long QT syndrome|Long QT syndrome|Cardiac arrhythmia
- rs199472713Pathogenicsingle nucleotide variantLong QT syndrome|Congenital long QT syndrome
- rs199472759Pathogenicsingle nucleotide variantCongenital long QT syndrome|Long QT syndrome 1
- rs199472801Pathogenicsingle nucleotide variantCongenital long QT syndrome|Cardiovascular phenotype|Long QT syndrome
- rs199472806Pathogenicsingle nucleotide variantCongenital long QT syndrome|Long QT syndrome 1
- rs199473394Pathogenicsingle nucleotide variantCongenital long QT syndrome|Long QT syndrome|Long QT syndrome 1|Cardiovascular phenotype|Cardiac arrhythmia
- rs199473456Pathogenicsingle nucleotide variantLong QT syndrome|Congenital long QT syndrome|Long QT syndrome 1|Cardiac arrhythmia
- rs387906290Pathogenicsingle nucleotide variantLong QT syndrome 1
- rs397508067PathogenicDeletion
- rs397508069PathogenicDeletionLong QT syndrome 1
- rs397508091Pathogenicsingle nucleotide variantLong QT syndrome 1|Congenital long QT syndrome|Long QT syndrome
- rs397508093Pathogenicsingle nucleotide variantLong QT syndrome 1|Cardiovascular phenotype
- rs397508096Pathogenicsingle nucleotide variantLong QT syndrome|Cardiac arrhythmia
- rs397508103PathogenicDeletionJervell and Lange-Nielsen syndrome 1|Long QT syndrome
- rs397508110PathogenicDeletionLong QT syndrome|Jervell and Lange-Nielsen syndrome 1
- rs397508116PathogenicDeletionLong QT syndrome 1/2, digenic
- rs397508120PathogenicDeletionLong QT syndrome|Congenital long QT syndrome
- rs397508129PathogenicDeletionLong QT syndrome|Cardiac arrhythmia
- rs530612385Pathogenicsingle nucleotide variantCardiovascular phenotype|Long QT syndrome
- rs762814879Pathogenicsingle nucleotide variantLong QT syndrome|Long QT syndrome 1|Congenital long QT syndrome|Cardiac arrhythmia
- rs763462603PathogenicDuplicationLong QT syndrome 1
- rs765169367PathogenicDeletionLong QT syndrome
- rs794728517Pathogenicsingle nucleotide variantLong QT syndrome
- rs794728527Pathogenicsingle nucleotide variantLong QT syndrome
- rs794728530Pathogenicsingle nucleotide variantCongenital long QT syndrome
- rs794728531Pathogenicsingle nucleotide variantLong QT syndrome|Long QT syndrome 1
- rs794728533Pathogenicsingle nucleotide variant
- rs794728536Pathogenicsingle nucleotide variantLong QT syndrome 1
- rs794728537Pathogenicsingle nucleotide variantLong QT syndrome 1|Long QT syndrome|Congenital long QT syndrome
- rs794728538Pathogenicsingle nucleotide variant
- rs794728540Pathogenicsingle nucleotide variantLong QT syndrome
- rs794728547PathogenicDuplicationLong QT syndrome
- rs794728553Pathogenicsingle nucleotide variant
- rs794728557PathogenicDeletion
- rs794728562PathogenicDeletionLong QT syndrome|Congenital long QT syndrome
- rs794728566PathogenicDeletionLong QT syndrome 1
- rs794728567Pathogenicsingle nucleotide variant
- rs794728568Pathogenicsingle nucleotide variant
- rs794728569Pathogenicsingle nucleotide variant
- rs794728572Pathogenicsingle nucleotide variant
- rs794728573Pathogenicsingle nucleotide variant
- rs876661350Pathogenicsingle nucleotide variant
- rs878854348Pathogenicsingle nucleotide variantLong QT syndrome 1|Long QT syndrome
- rs878854349PathogenicDuplicationLong QT syndrome 1
- rs878854350Pathogenicsingle nucleotide variantLong QT syndrome 1|Long QT syndrome|Cardiovascular phenotype
- rs145229963Uncertain significancesingle nucleotide variantCardiovascular phenotype|Long QT syndrome|Familial atrial fibrillation|Jervell and Lange-Nielsen syndrome|Short QT syndrome|Congenital long QT syndrome|Short QT syndrome type 2|Atrial fibrillation, familial, 3|Beckwith-Wiedemann syndrome|Jervell and Lange-Nielsen syndrome 1|Long QT syndrome 1|Cardiac arrhythmia
- rs149089817Uncertain significancesingle nucleotide variantCardiac arrhythmia|Long QT syndrome
- rs150172393Uncertain significancesingle nucleotide variantCongenital long QT syndrome|Long QT syndrome|Cardiac arrhythmia
- rs199472699Uncertain significancesingle nucleotide variantCongenital long QT syndrome|Long QT syndrome
- rs199472700Uncertain significancesingle nucleotide variantCongenital long QT syndrome
- rs199472792Uncertain significancesingle nucleotide variantCongenital long QT syndrome|Long QT syndrome
- rs199473405Uncertain significancesingle nucleotide variantCongenital long QT syndrome|Long QT syndrome|Cardiac arrhythmia
- rs36210419Uncertain significancesingle nucleotide variantTorsades de pointes|Long QT syndrome
- rs374090960Uncertain significancesingle nucleotide variantLong QT syndrome
- rs794728516Uncertain significancesingle nucleotide variant
- rs794728526Uncertain significancesingle nucleotide variant
- rs914460959Uncertain significancesingle nucleotide variantLong QT syndrome
- rs397508133Not classifiedsingle nucleotide variantLong QT syndrome 1
Other listed variants
- rs78131
- rs81205
- rs149373
- rs151293
- rs163171
- rs163182
- rs163183
- rs163184
- rs179405
- rs179426
- rs179429
- rs179436
- rs179486
- rs179785
- rs231348
- rs231351
- rs231356
- rs231358
- rs231362
- rs231877
- rs231878
- rs231906
- rs231916
- rs233446
- rs234852
- rs234875
- rs422316
- rs743647
- rs756852
- rs800336
- rs1024163
- rs1116714
- rs1318599
- rs1459825
- rs2011750
- rs2012323
- rs2075873
- rs2106467
- rs2157762
- rs2237869
- rs2237878
- rs2237886
- rs2237892
- rs2237893
- rs2237895
- rs2237896
- rs2237897
- rs2283152
- rs2283164
- rs2283169
- rs2283171
- rs2283172
- rs2283196
- rs2283200
- rs2283202
- rs2283205
- rs2283212
- rs2283213
- rs2283228
- rs2522015
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.