RGD:8614002 Rat Genome Database

Variant: RGD:8614002 - Homo sapiens

RGD ID:

8614002

RS ID:

rs199472697

ClinVar ID:

CV67727

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

KCNQ1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	11	2,591,901
GRCh38	11	2,570,671

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_287t2:c.140G>A LRG_287:g.130681G>A NG_008935.1:g.130681G>A NC_000011.10:g.2570671G>A More...	07/31/2019	missense\|missense variant	pathogenic\|likely pathogenic\|not provided	Beckwith-Wiedemann syndrome; Cardioauditory syndrome of Jervell and Lange-Nielsen; Deafness, congenital, and functional heart disease; EMG Syndrome; Exomphalos macroglossia gigantism syndrome; Familial long QT syndrome; Jervell and Lange-Nielsen syndrome 1; Long QT syndrome 1; none provided; Prolonged QT interval in EKG and sudden death; Romano-Ward syndrome; Short QT syndrome type 2; Surdo-cardiac syndrome; Ventricular fibrillation with prolonged QT interval

Disease Annotations Click to see Annotation Detail View

Beckwith-Wiedemann syndrome (IAGP)

Familial Atrial Fibrillation 3 (IAGP)

Jervell-Lange Nielsen syndrome (IAGP)

long QT syndrome (IAGP)

long QT syndrome 1 (IAGP)

Romano-Ward Syndrome (IAGP)

Short QT Syndrome 2 (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Prolonged QT interval (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	KCNQ1
Accession:	NM_000218
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	174

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAASSPPRAERKRWGWGRLPGARRGSAGLAKKCPFSLELAEGGPAGGALYAPIAPGAPGPAPPASPAAPAAPPVASDLG PRPPVSLDPRVSIYSTRRPVLARTHVQGRVYNFLERPTGWKCFVYHFAVFLIVLVCLIFSVLSTIEQYAALATGTLFWME IVLVVFFGTEYVVHLWSAGCRSKYVGLWGRLRFARKPISIIDLIVVVASMVVLCVGSKGQVFATSAIRGIRFLQILRMLH VDRQGGTWRLLGSVVFIHRQELITTLYIGFLGLIFSSYFVYLAEKDAVNESGRVEFGSYADALWWGVVTVTTIGYGDKVP QTWVGKTIASCFSVFAISFFALPAGILGSGFALKVQQKQRQKHFNRQIPAAASLIQTAWRCYAAENPDSSTWKIYIRKAP RSHTLLSPSPKPKKSVVVKKKKFKLDKDNGVTPGEKMLTVPHITCDPPEERRLDHFSVDGYDSSVRKSPTLLEVSMPHFM RTNSFAEDLDLEGETLLTPITHISQLREHHRATIKVIRRMQYFVAKKKFQQARKPYDVRDVIEQYSQGHLNLMVRIKELQ RRLDQSIGKPSLFISVSEKSKDRGSNTIGARLNRVEDKVTQLDQRLALITDMLHQLLSLHGGSTPGSGGPPREGGAHITQ PCGSGGSVDPELFLPSNTLPTYEQLTVPRRGPDEGS*

Gene Symbol:	KCNQ1
Accession:	NM_181798
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	47

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDFLIVLVCLIFSVLSTIEQYAALATGTLFWMEIVLVVFFGTEYVVHLWSAGCRSKYVGLWGRLRFARKPISIIDLIVVV ASMVVLCVGSKGQVFATSAIRGIRFLQILRMLHVDRQGGTWRLLGSVVFIHRQELITTLYIGFLGLIFSSYFVYLAEKDA VNESGRVEFGSYADALWWGVVTVTTIGYGDKVPQTWVGKTIASCFSVFAISFFALPAGILGSGFALKVQQKQRQKHFNRQ IPAAASLIQTAWRCYAAENPDSSTWKIYIRKAPRSHTLLSPSPKPKKSVVVKKKKFKLDKDNGVTPGEKMLTVPHITCDP PEERRLDHFSVDGYDSSVRKSPTLLEVSMPHFMRTNSFAEDLDLEGETLLTPITHISQLREHHRATIKVIRRMQYFVAKK KFQQARKPYDVRDVIEQYSQGHLNLMVRIKELQRRLDQSIGKPSLFISVSEKSKDRGSNTIGARLNRVEDKVTQLDQRLA LITDMLHQLLSLHGGSTPGSGGPPREGGAHITQPCGSGGSVDPELFLPSNTLPTYEQLTVPRRGPDEGS*

Gene Symbol:	KCNQ1
Accession:	NM_001406837
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	84

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLRLPLRRIQEIKHTVTRVQSSVKRSSGYTPRGFSFDPGFLIVLVCLIFSVLSTIEQYAALATGTLFWMEIVLVVFFGTE YVVHLWSAGCRSKYVGLWGRLRFARKPISIIDLIVVVASMVVLCVGSKGQVFATSAIRGIRFLQILRMLHVDRQGGTWRL LGSVVFIHRQELITTLYIGFLGLIFSSYFVYLAEKDAVNESGRVEFGSYADALWWGVVTVTTIGYGDKVPQTWVGKTIAS CFSVFAISFFALPAGILGSGFALKVQQKQRQKHFNRQIPAAASLIQTAWRCYAAENPDSSTWKIYIRKAPRSHTLLSPSP KPKKSVVVKKKKFKLDKDNGVTPGEKMLTVPHITCDPPEERRLDHFSVDGYDSSVRKSPTLLEVSMPHFMRTNSFAEDLD LEGETLLTPITHISQLREHHRATIKVIRRMQYFVAKKKFQQARKPYDVRDVIEQYSQGHLNLMVRIKELQRRLDQSIGKP SLFISVSEKSKDRGSNTIGARLNRVEDKVTQLDQRLALITDMLHQLLSLHGGSTPGSGGPPREGGAHITQPCGSGGSVDP ELFLPSNTLPTYEQLTVPRRGPDEGS*

Gene Symbol:	KCNQ1
Accession:	NM_001406836
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	174

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAASSPPRAERKRWGWGRLPGARRGSAGLAKKCPFSLELAEGGPAGGALYAPIAPGAPGPAPPASPAAPAAPPVASDLG PRPPVSLDPRVSIYSTRRPVLARTHVQGRVYNFLERPTGWKCFVYHFAVFLIVLVCLIFSVLSTIEQYAALATGTLFWME IVLVVFFGTEYVVHLWSAGCRSKYVGLWGRLRFARKPISIIDLIVVVASMVVLCVGSKGQVFATSAIRGIRFLQILRMLH VDRQGGTWRLLGSVVFIHRQELITTLYIGFLGLIFSSYFVYLAEKDAVNESGRVEFGSYADALWWGVVTVTTIGYGDKVP QTWVGKTIASCFSVFAISFFALPATAWRCYAAENPDSSTWKIYIRKAPRSHTLLSPSPKPKKSVVVKKKKFKLDKDNGVT PGEKMLTVPHITCDPPEERRLDHFSVDGYDSSVRKSPTLLEVSMPHFMRTNSFAEDLDLEGETLLTPITHISQLREHHRA TIKVIRRMQYFVAKKKFQQARKPYDVRDVIEQYSQGHLNLMVRIKELQRRLDQSIGKPSLFISVSEKSKDRGSNTIGARL NRVEDKVTQLDQRLALITDMLHQLLSLHGGSTPGSGGPPREGGAHITQPCGSGGSVDPELFLPSNTLPTYEQLTVPRRGP DEGS*

Gene Symbol:	KCNQ1
Accession:	NM_001406838
Location:	INTRON

Gene Symbol:	KCNQ1
Accession:	NM_001406839
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:9386136	PMID:10367071	PMID:10973849	PMID:14998624	PMID:15234419	PMID:15840476	PMID:17470695	PMID:19716085	PMID:20486126	PMID:22581653	PMID:23130128	PMID:23392653
PMID:25741868	PMID:27251404	PMID:28492532	PMID:29532034	PMID:30571187	PMID:34505893

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000057690	CLINVAR
	RCV000223741	CLINVAR
	RCV000984322	CLINVAR
	RCV001386000	CLINVAR
	RCV002336182	CLINVAR
	RCV002496703	CLINVAR
dbSNP (RS)	rs199472697	CLINVAR
MedGen	C0023976	CLINVAR
	C1141890	CLINVAR
	C1837014	CLINVAR
	C3661900	CLINVAR
	C4551647	CLINVAR
	CN230736	CLINVAR
NCBI Gene	KCNQ1	CLINVAR
OMIM	130650	CLINVAR
	192500	CLINVAR
	220400	CLINVAR
	607542	CLINVAR
	607554	CLINVAR
	609621	CLINVAR
SNOMED CT	442917000	CLINVAR
	81780002	CLINVAR
	9651007	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Variant: RGD:8614002 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:8614002 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar