RGD:8557232 Rat Genome Database

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Variant: RGD:8557232 -  Homo sapiens

RGD ID: 8557232
RS ID: rs17215500
ClinVar ID: CV18170
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 2,790,111
GRCh38 11 2,768,881
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_287:g.328891C>T
NG_008935.1:g.328891C>T
NC_000011.10:g.2768881C>T
NC_000011.9:g.2790111C>T
More... 		02/07/2020 nonsense|stop-gain pathogenic|benign|conflicting interpretations of pathogenicity|drug response|uncertain significance|not provided AllHighlyPenetrant; cardiac conduction defect; Cardiac rhythm disease; Cardioauditory syndrome of Jervell and Lange-Nielsen; Deafness, congenital, and functional heart disease; Familial long QT syndrome; none provided; Prolonged QT interval in EKG and sudden death; Romano-Ward syndrome; Surdo-cardiac syndrome; Ventricular fibrillation with prolonged QT interval
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:KCNQ1
Accession:NM_000218
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 518
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAASSPPRAERKRWGWGRLPGARRGSAGLAKKCPFSLELAEGGPAGGALYAPIAPGAPGPAPPASPAAPAAPPVASDLG
PRPPVSLDPRVSIYSTRRPVLARTHVQGRVYNFLERPTGWKCFVYHFAVFLIVLVCLIFSVLSTIEQYAALATGTLFWME
IVLVVFFGTEYVVRLWSAGCRSKYVGLWGRLRFARKPISIIDLIVVVASMVVLCVGSKGQVFATSAIRGIRFLQILRMLH
VDRQGGTWRLLGSVVFIHRQELITTLYIGFLGLIFSSYFVYLAEKDAVNESGRVEFGSYADALWWGVVTVTTIGYGDKVP
QTWVGKTIASCFSVFAISFFALPAGILGSGFALKVQQKQRQKHFNRQIPAAASLIQTAWRCYAAENPDSSTWKIYIRKAP
RSHTLLSPSPKPKKSVVVKKKKFKLDKDNGVTPGEKMLTVPHITCDPPEERRLDHFSVDGYDSSVRKSPTLLEVSMPHFM
RTNSFAEDLDLEGETLLTPITHISQLREHHRATIKVI*RMQYFVAKKKFQQARKPYDVRDVIEQYSQGHLNLMVRIKELQ
RRLDQSIGKPSLFISVSEKSKDRGSNTIGARLNRVEDKVTQLDQRLALITDMLHQLLSLHGGSTPGSGGPPREGGAHITQ
PCGSGGSVDPELFLPSNTLPTYEQLTVPRRGPDEGS*

Gene Symbol:KCNQ1
Accession:NM_001406838
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 338
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAASSPPRAERKRWGWGRLPGARRGSAGLAKKCPFSLELAEGGPAGGALYAPIAPGAPGPAPPASPAAPAAPPVASDLG
PRPPVSLDPRVSIYSTRRPVLARTHVQGRVYNFLERPTGWKCFVYHFAVFLIVLVCLIFSVLSTIEQYAALATGTLFWMV
TVTTIGYGDKVPQTWVGKTIASCFSVFAISFFALPATAWRCYAAENPDSSTWKIYIRKAPRSHTLLSPSPKPKKSVVVKK
KKFKLDKDNGVTPGEKMLTVPHITCDPPEERRLDHFSVDGYDSSVRKSPTLLEVSMPHFMRTNSFAEDLDLEGETLLTPI
THISQLREHHRATIKVI*RMQYFVAKKKFQQARKPYDVRDVIEQYSQGHLNLMVRIKELQRRLDQSIGKPSLFISVSEKS
KDRGSNTIGARLNRVEDKVTQLDQRLALITDMLHQLLSLHGGSTPGSGGPPREGGAHITQPCGSGGSVDPELFLPSNTLP
TYEQLTVPRRGPDEGS*

Gene Symbol:KCNQ1
Accession:NM_181798
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 391
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFLIVLVCLIFSVLSTIEQYAALATGTLFWMEIVLVVFFGTEYVVRLWSAGCRSKYVGLWGRLRFARKPISIIDLIVVV
ASMVVLCVGSKGQVFATSAIRGIRFLQILRMLHVDRQGGTWRLLGSVVFIHRQELITTLYIGFLGLIFSSYFVYLAEKDA
VNESGRVEFGSYADALWWGVVTVTTIGYGDKVPQTWVGKTIASCFSVFAISFFALPAGILGSGFALKVQQKQRQKHFNRQ
IPAAASLIQTAWRCYAAENPDSSTWKIYIRKAPRSHTLLSPSPKPKKSVVVKKKKFKLDKDNGVTPGEKMLTVPHITCDP
PEERRLDHFSVDGYDSSVRKSPTLLEVSMPHFMRTNSFAEDLDLEGETLLTPITHISQLREHHRATIKVI*RMQYFVAKK
KFQQARKPYDVRDVIEQYSQGHLNLMVRIKELQRRLDQSIGKPSLFISVSEKSKDRGSNTIGARLNRVEDKVTQLDQRLA
LITDMLHQLLSLHGGSTPGSGGPPREGGAHITQPCGSGGSVDPELFLPSNTLPTYEQLTVPRRGPDEGS*

Gene Symbol:KCNQ1
Accession:NM_001406836
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 486
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAASSPPRAERKRWGWGRLPGARRGSAGLAKKCPFSLELAEGGPAGGALYAPIAPGAPGPAPPASPAAPAAPPVASDLG
PRPPVSLDPRVSIYSTRRPVLARTHVQGRVYNFLERPTGWKCFVYHFAVFLIVLVCLIFSVLSTIEQYAALATGTLFWME
IVLVVFFGTEYVVRLWSAGCRSKYVGLWGRLRFARKPISIIDLIVVVASMVVLCVGSKGQVFATSAIRGIRFLQILRMLH
VDRQGGTWRLLGSVVFIHRQELITTLYIGFLGLIFSSYFVYLAEKDAVNESGRVEFGSYADALWWGVVTVTTIGYGDKVP
QTWVGKTIASCFSVFAISFFALPATAWRCYAAENPDSSTWKIYIRKAPRSHTLLSPSPKPKKSVVVKKKKFKLDKDNGVT
PGEKMLTVPHITCDPPEERRLDHFSVDGYDSSVRKSPTLLEVSMPHFMRTNSFAEDLDLEGETLLTPITHISQLREHHRA
TIKVI*RMQYFVAKKKFQQARKPYDVRDVIEQYSQGHLNLMVRIKELQRRLDQSIGKPSLFISVSEKSKDRGSNTIGARL
NRVEDKVTQLDQRLALITDMLHQLLSLHGGSTPGSGGPPREGGAHITQPCGSGGSVDPELFLPSNTLPTYEQLTVPRRGP
DEGS*

Gene Symbol:KCNQ1
Accession:NM_001406837
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 428
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRLPLRRIQEIKHTVTRVQSSVKRSSGYTPRGFSFDPGFLIVLVCLIFSVLSTIEQYAALATGTLFWMEIVLVVFFGTE
YVVRLWSAGCRSKYVGLWGRLRFARKPISIIDLIVVVASMVVLCVGSKGQVFATSAIRGIRFLQILRMLHVDRQGGTWRL
LGSVVFIHRQELITTLYIGFLGLIFSSYFVYLAEKDAVNESGRVEFGSYADALWWGVVTVTTIGYGDKVPQTWVGKTIAS
CFSVFAISFFALPAGILGSGFALKVQQKQRQKHFNRQIPAAASLIQTAWRCYAAENPDSSTWKIYIRKAPRSHTLLSPSP
KPKKSVVVKKKKFKLDKDNGVTPGEKMLTVPHITCDPPEERRLDHFSVDGYDSSVRKSPTLLEVSMPHFMRTNSFAEDLD
LEGETLLTPITHISQLREHHRATIKVI*RMQYFVAKKKFQQARKPYDVRDVIEQYSQGHLNLMVRIKELQRRLDQSIGKP
SLFISVSEKSKDRGSNTIGARLNRVEDKVTQLDQRLALITDMLHQLLSLHGGSTPGSGGPPREGGAHITQPCGSGGSVDP
ELFLPSNTLPTYEQLTVPRRGPDEGS*

Gene Symbol:KCNQ1
Accession:NM_001406839
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9323054   PMID:10482963   PMID:10704188   PMID:10737999   PMID:10973849   PMID:11530100   PMID:12736279   PMID:14510661   PMID:15935335   PMID:16556866   PMID:19862833   PMID:22309168  
PMID:22539601   PMID:23098067   PMID:23392653   PMID:24033266   PMID:24052033   PMID:24552659   PMID:24912595   PMID:25236808   PMID:25705178   PMID:25741868   PMID:26019114   PMID:26546361  
PMID:27451284   PMID:27816319   PMID:27831900   PMID:28438721   PMID:28492532   PMID:28720088   PMID:29247119   PMID:29372044   PMID:29379719   PMID:29654130   PMID:29661707   PMID:29740400  
PMID:29922582   PMID:32238909  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000003279 CLINVAR
  RCV000148548 CLINVAR
  RCV000182196 CLINVAR
  RCV000251958 CLINVAR
  RCV000515748 CLINVAR
  RCV000614524 CLINVAR
  RCV000779058 CLINVAR
  RCV000999897 CLINVAR
  RCV001256915 CLINVAR
  RCV001841226 CLINVAR
  RCV001847566 CLINVAR
dbSNP (RS) rs17215500 CLINVAR
MedGen C0003811 CLINVAR
  C0023976 CLINVAR
  C0264886 CLINVAR
  C1141890 CLINVAR
  C3661900 CLINVAR
  C4017089 CLINVAR
  C4551509 CLINVAR
  C4551647 CLINVAR
  CN169374 CLINVAR
  CN230736 CLINVAR
  CN239322 CLINVAR
NCBI Gene KCNQ1 CLINVAR
OMIM 115080 CLINVAR
  192500 CLINVAR
  220400 CLINVAR
  607542 CLINVAR
OMIM Allele 607542.0020 CLINVAR
SNOMED CT 442917000 CLINVAR
  44808001 CLINVAR
  698247007 CLINVAR
  9651007 CLINVAR