RGD:8614014 Rat Genome Database

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Variant: RGD:8614014 -  Homo sapiens

RGD ID: 8614014
RS ID: rs199473401
ClinVar ID: CV67739
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 2,591,952
GRCh38 11 2,570,722
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_287t2:c.191T>C
LRG_287:g.130732T>C
NG_008935.1:g.130732T>C
NC_000011.10:g.2570722T>C
More... 		02/01/2013 missense|missense variant pathogenic|not provided Familial long QT syndrome; Romano-Ward syndrome; Ventricular fibrillation with prolonged QT interval
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNQ1
Accession:NM_001406836
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 191
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAASSPPRAERKRWGWGRLPGARRGSAGLAKKCPFSLELAEGGPAGGALYAPIAPGAPGPAPPASPAAPAAPPVASDLG
PRPPVSLDPRVSIYSTRRPVLARTHVQGRVYNFLERPTGWKCFVYHFAVFLIVLVCLIFSVLSTIEQYAALATGTLFWME
IVLVVFFGTEYVVRLWSAGCRSKYVGLWGRPRFARKPISIIDLIVVVASMVVLCVGSKGQVFATSAIRGIRFLQILRMLH
VDRQGGTWRLLGSVVFIHRQELITTLYIGFLGLIFSSYFVYLAEKDAVNESGRVEFGSYADALWWGVVTVTTIGYGDKVP
QTWVGKTIASCFSVFAISFFALPATAWRCYAAENPDSSTWKIYIRKAPRSHTLLSPSPKPKKSVVVKKKKFKLDKDNGVT
PGEKMLTVPHITCDPPEERRLDHFSVDGYDSSVRKSPTLLEVSMPHFMRTNSFAEDLDLEGETLLTPITHISQLREHHRA
TIKVIRRMQYFVAKKKFQQARKPYDVRDVIEQYSQGHLNLMVRIKELQRRLDQSIGKPSLFISVSEKSKDRGSNTIGARL
NRVEDKVTQLDQRLALITDMLHQLLSLHGGSTPGSGGPPREGGAHITQPCGSGGSVDPELFLPSNTLPTYEQLTVPRRGP
DEGS*

Gene Symbol:KCNQ1
Accession:NM_000218
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 191
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAASSPPRAERKRWGWGRLPGARRGSAGLAKKCPFSLELAEGGPAGGALYAPIAPGAPGPAPPASPAAPAAPPVASDLG
PRPPVSLDPRVSIYSTRRPVLARTHVQGRVYNFLERPTGWKCFVYHFAVFLIVLVCLIFSVLSTIEQYAALATGTLFWME
IVLVVFFGTEYVVRLWSAGCRSKYVGLWGRPRFARKPISIIDLIVVVASMVVLCVGSKGQVFATSAIRGIRFLQILRMLH
VDRQGGTWRLLGSVVFIHRQELITTLYIGFLGLIFSSYFVYLAEKDAVNESGRVEFGSYADALWWGVVTVTTIGYGDKVP
QTWVGKTIASCFSVFAISFFALPAGILGSGFALKVQQKQRQKHFNRQIPAAASLIQTAWRCYAAENPDSSTWKIYIRKAP
RSHTLLSPSPKPKKSVVVKKKKFKLDKDNGVTPGEKMLTVPHITCDPPEERRLDHFSVDGYDSSVRKSPTLLEVSMPHFM
RTNSFAEDLDLEGETLLTPITHISQLREHHRATIKVIRRMQYFVAKKKFQQARKPYDVRDVIEQYSQGHLNLMVRIKELQ
RRLDQSIGKPSLFISVSEKSKDRGSNTIGARLNRVEDKVTQLDQRLALITDMLHQLLSLHGGSTPGSGGPPREGGAHITQ
PCGSGGSVDPELFLPSNTLPTYEQLTVPRRGPDEGS*

Gene Symbol:KCNQ1
Accession:NM_181798
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 64
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFLIVLVCLIFSVLSTIEQYAALATGTLFWMEIVLVVFFGTEYVVRLWSAGCRSKYVGLWGRPRFARKPISIIDLIVVV
ASMVVLCVGSKGQVFATSAIRGIRFLQILRMLHVDRQGGTWRLLGSVVFIHRQELITTLYIGFLGLIFSSYFVYLAEKDA
VNESGRVEFGSYADALWWGVVTVTTIGYGDKVPQTWVGKTIASCFSVFAISFFALPAGILGSGFALKVQQKQRQKHFNRQ
IPAAASLIQTAWRCYAAENPDSSTWKIYIRKAPRSHTLLSPSPKPKKSVVVKKKKFKLDKDNGVTPGEKMLTVPHITCDP
PEERRLDHFSVDGYDSSVRKSPTLLEVSMPHFMRTNSFAEDLDLEGETLLTPITHISQLREHHRATIKVIRRMQYFVAKK
KFQQARKPYDVRDVIEQYSQGHLNLMVRIKELQRRLDQSIGKPSLFISVSEKSKDRGSNTIGARLNRVEDKVTQLDQRLA
LITDMLHQLLSLHGGSTPGSGGPPREGGAHITQPCGSGGSVDPELFLPSNTLPTYEQLTVPRRGPDEGS*

Gene Symbol:KCNQ1
Accession:NM_001406837
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 101
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRLPLRRIQEIKHTVTRVQSSVKRSSGYTPRGFSFDPGFLIVLVCLIFSVLSTIEQYAALATGTLFWMEIVLVVFFGTE
YVVRLWSAGCRSKYVGLWGRPRFARKPISIIDLIVVVASMVVLCVGSKGQVFATSAIRGIRFLQILRMLHVDRQGGTWRL
LGSVVFIHRQELITTLYIGFLGLIFSSYFVYLAEKDAVNESGRVEFGSYADALWWGVVTVTTIGYGDKVPQTWVGKTIAS
CFSVFAISFFALPAGILGSGFALKVQQKQRQKHFNRQIPAAASLIQTAWRCYAAENPDSSTWKIYIRKAPRSHTLLSPSP
KPKKSVVVKKKKFKLDKDNGVTPGEKMLTVPHITCDPPEERRLDHFSVDGYDSSVRKSPTLLEVSMPHFMRTNSFAEDLD
LEGETLLTPITHISQLREHHRATIKVIRRMQYFVAKKKFQQARKPYDVRDVIEQYSQGHLNLMVRIKELQRRLDQSIGKP
SLFISVSEKSKDRGSNTIGARLNRVEDKVTQLDQRLALITDMLHQLLSLHGGSTPGSGGPPREGGAHITQPCGSGGSVDP
ELFLPSNTLPTYEQLTVPRRGPDEGS*

Gene Symbol:KCNQ1
Accession:NM_001406839
Location:INTRON

Gene Symbol:KCNQ1
Accession:NM_001406838
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:12442276   PMID:19041715   PMID:22581653  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000057708 CLINVAR
dbSNP (RS) rs199473401 CLINVAR
MedGen C1141890 CLINVAR
NCBI Gene KCNQ1 CLINVAR
OMIM 192500 CLINVAR
  607542 CLINVAR
SNOMED CT 442917000 CLINVAR