RGD:8622872 Rat Genome Database

Variant: RGD:8622872 - Homo sapiens

RGD ID:

8622872

RS ID:

rs145229963

ClinVar ID:

CV77926

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

KCNQ1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	11	2,610,046
GRCh38	11	2,588,816

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.974G>A LRG_287:g.148826G>A NG_008935.1:g.148826G>A NC_000011.10:g.2588816G>A More...	03/13/2023	missense\|missense variant	likely pathogenic\|benign\|likely benign\|uncertain significance\|not provided	AllHighlyPenetrant; Beckwith-Wiedemann syndrome; Cardiac rhythm disease; Cardioauditory syndrome of Jervell and Lange-Nielsen; Deafness, congenital, and functional heart disease; EMG Syndrome; Exomphalos macroglossia gigantism syndrome; Familial long QT syndrome; Familial short QT syndrome; Jervell and Lange-Nielsen syndrome 1; Jervell-Lange Nielsen syndrome; 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)

Cardiac Arrhythmias (IAGP)

familial atrial fibrillation (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 (IAGP)

Short QT Syndrome 2 (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Arrhythmia (IAGP)

Prolonged QT interval (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	KCNQ1
Accession:	NM_000218
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	452

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

Gene Symbol:	KCNQ1
Accession:	NM_181798
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	325

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

Gene Symbol:	KCNQ1
Accession:	NM_001406838
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	272

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAASSPPRAERKRWGWGRLPGARRGSAGLAKKCPFSLELAEGGPAGGALYAPIAPGAPGPAPPASPAAPAAPPVASDLG PRPPVSLDPRVSIYSTRRPVLARTHVQGRVYNFLERPTGWKCFVYHFAVFLIVLVCLIFSVLSTIEQYAALATGTLFWMV TVTTIGYGDKVPQTWVGKTIASCFSVFAISFFALPATAWRCYAAENPDSSTWKIYIRKAPRSHTLLSPSPKPKKSVVVKK KKFKLDKDNGVTPGEKMLTVPHITCDPPEERQLDHFSVDGYDSSVRKSPTLLEVSMPHFMRTNSFAEDLDLEGETLLTPI THISQLREHHRATIKVIRRMQYFVAKKKFQQARKPYDVRDVIEQYSQGHLNLMVRIKELQRRLDQSIGKPSLFISVSEKS KDRGSNTIGARLNRVEDKVTQLDQRLALITDMLHQLLSLHGGSTPGSGGPPREGGAHITQPCGSGGSVDPELFLPSNTLP TYEQLTVPRRGPDEGS*

Gene Symbol:	KCNQ1
Accession:	NM_001406837
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	362

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

Gene Symbol:	KCNQ1
Accession:	NM_001406836
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	420

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

Gene Symbol:	KCNQ1
Accession:	NM_001406839
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:19841300	PMID:22581653	PMID:25649125	PMID:25741868	PMID:25854863	PMID:26318259	PMID:28492532	PMID:29197658	PMID:31696929

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000057583	CLINVAR
	RCV000246256	CLINVAR
	RCV000284895	CLINVAR
	RCV000297971	CLINVAR
	RCV000337547	CLINVAR
	RCV000355198	CLINVAR
	RCV000398200	CLINVAR
	RCV000764975	CLINVAR
	RCV001255594	CLINVAR
	RCV001841666	CLINVAR
	RCV003448257	CLINVAR
dbSNP (RS)	rs145229963	CLINVAR
MedGen	C0003811	CLINVAR
	C0022387	CLINVAR
	C0023976	CLINVAR
	C1141890	CLINVAR
	C1837014	CLINVAR
	C2348199	CLINVAR
	C3468561	CLINVAR
	C3661900	CLINVAR
	CN169374	CLINVAR
	CN230736	CLINVAR
NCBI Gene	KCNQ1	CLINVAR
OMIM	130650	CLINVAR
	192500	CLINVAR
	220400	CLINVAR
	607542	CLINVAR
	607554	CLINVAR
	609621	CLINVAR
SNOMED CT	373905003	CLINVAR
	442917000	CLINVAR
	698247007	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:8622872 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:8622872 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar