RGD:8622862 Rat Genome Database

Variant: RGD:8622862 - Homo sapiens

RGD ID:

8622862

RS ID:

rs12720457

ClinVar ID:

CV77916

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

KCNQ1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	11	2,608,850
GRCh38	11	2,587,620

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.798G>T LRG_287:g.147630G>T NG_008935.1:g.147630G>T NC_000011.10:g.2587620G>T More...	05/01/2019	missense\|missense variant	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	AllHighlyPenetrant; Cardiac rhythm disease; Cardioauditory syndrome of Jervell and Lange-Nielsen; Cardiomyopathies; 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

Cardiac Arrhythmias (IAGP)

cardiomyopathy (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

Arrhythmia (IAGP)

Cardiomyopathy (IAGP)

Prolonged QT interval (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	KCNQ1
Accession:	NM_000218
Location:	EXON
Amino Acid Prediction:	K to N (nonsynonymous)
Amino Acid Position:	393

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

Gene Symbol:	KCNQ1
Accession:	NM_001406838
Location:	EXON
Amino Acid Prediction:	K to N (nonsynonymous)
Amino Acid Position:	213

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

Gene Symbol:	KCNQ1
Accession:	NM_001406836
Location:	EXON
Amino Acid Prediction:	K to N (nonsynonymous)
Amino Acid Position:	361

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

Gene Symbol:	KCNQ1
Accession:	NM_001406837
Location:	EXON
Amino Acid Prediction:	K to N (nonsynonymous)
Amino Acid Position:	303

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

Gene Symbol:	KCNQ1
Accession:	NM_181798
Location:	EXON
Amino Acid Prediction:	K to N (nonsynonymous)
Amino Acid Position:	266

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

Gene Symbol:	KCNQ1
Accession:	NM_001406839
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:14661677	PMID:14678125	PMID:16556865	PMID:17161064	PMID:17210839	PMID:17470695	PMID:19841300	PMID:19862833	PMID:21185501	PMID:22581653	PMID:22677073	PMID:22949429
PMID:23571586	PMID:23861362	PMID:24033266	PMID:25741868	PMID:26498160	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000057570	CLINVAR
	RCV000148543	CLINVAR
	RCV000154657	CLINVAR
	RCV000305127	CLINVAR
	RCV000306809	CLINVAR
	RCV000394030	CLINVAR
	RCV000394039	CLINVAR
	RCV000852645	CLINVAR
	RCV001094051	CLINVAR
	RCV001841659	CLINVAR
	RCV002336208	CLINVAR
dbSNP (RS)	rs12720457	CLINVAR
MedGen	C0003811	CLINVAR
	C0023976	CLINVAR
	C0878544	CLINVAR
	C1141890	CLINVAR
	C1837014	CLINVAR
	C1865019	CLINVAR
	C3661900	CLINVAR
	C4551509	CLINVAR
	C4551647	CLINVAR
	CN169374	CLINVAR
	CN230736	CLINVAR
NCBI Gene	KCNQ1	CLINVAR
OMIM	192500	CLINVAR
	220400	CLINVAR
	607542	CLINVAR
	607554	CLINVAR
	609621	CLINVAR
SNOMED CT	442917000	CLINVAR
	698247007	CLINVAR
	85898001	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:8622862 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

Create Name:

Description:

Send us a Message

Variant: RGD:8622862 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar