RGD:8613971 Rat Genome Database

Variant: RGD:8613971 - Homo sapiens

RGD ID:

8613971

RS ID:

rs199473443

ClinVar ID:

CV67696

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

KCNQ1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	11	2,466,347
GRCh38	11	2,445,117

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	Prevalence	Trait Synonyms
LRG_287:g.5127C>T NG_008935.1:g.5127C>T NC_000011.10:g.2445117C>T NC_000011.9:g.2466347C>T More...	01/01/2024	missense\|missense variant	pathogenic\|benign\|uncertain significance\|not provided	1-5 / 10 000	AllHighlyPenetrant; 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

Familial Atrial Fibrillation 3 (IAGP)

long QT syndrome (IAGP)

long QT syndrome 1 (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Prolonged QT interval (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	KCNQ1
Accession:	NM_001406837
Location:	5UTRS;EXON

Gene Symbol:	KCNQ1
Accession:	NM_001406836
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	7

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

Gene Symbol:	KCNQ1
Accession:	NM_000218
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	7

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

Gene Symbol:	KCNQ1
Accession:	NM_001406838
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	7

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

Gene Symbol:	KCNQ1
Accession:	NM_001406839
Location:	INTRON

Gene Symbol:	KCNQ1
Accession:	NM_181798
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:18452873	PMID:19716085	PMID:19862833	PMID:22581653	PMID:24033266	PMID:25741868	PMID:28492532	PMID:29790872

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000057653	CLINVAR
	RCV000454712	CLINVAR
	RCV000495985	CLINVAR
	RCV001305107	CLINVAR
	RCV002223779	CLINVAR
	RCV002483050	CLINVAR
dbSNP (RS)	rs199473443	CLINVAR
MedGen	C0023976	CLINVAR
	C1141890	CLINVAR
	C1837014	CLINVAR
	C3661900	CLINVAR
	C4551647	CLINVAR
	CN169374	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:8613971 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:8613971 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar