rs377661455 Rat Genome Database

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Variant: rs377661455 - Homo sapiens

RGD ID:

11615716

RS ID:

rs377661455

ClinVar ID:

CV327130

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

KCNQ1 KCNQ1-AS1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	11	2,869,175
GRCh38	11	2,847,945

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.1592C>A LRG_287:g.407955C>A NG_008935.1:g.407955C>A NC_000011.10:g.2847945C>A More...	06/14/2016	missense variant	uncertain significance	Familial long QT syndrome; Familial short QT syndrome; Jervell-Lange Nielsen syndrome; Romano-Ward syndrome; Ventricular fibrillation with prolonged QT interval

Disease Annotations Click to see Annotation Detail View

familial atrial fibrillation (IAGP)

Jervell-Lange Nielsen syndrome (IAGP)

long QT syndrome (IAGP)

short QT syndrome (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:	EXON
Amino Acid Prediction:	T to N (nonsynonymous)
Amino Acid Position:	568

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

Gene Symbol:	KCNQ1
Accession:	NM_000218
Location:	EXON
Amino Acid Prediction:	T to N (nonsynonymous)
Amino Acid Position:	658

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

Gene Symbol:	KCNQ1
Accession:	NM_181798
Location:	EXON
Amino Acid Prediction:	T to N (nonsynonymous)
Amino Acid Position:	531

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

Gene Symbol:	KCNQ1
Accession:	NM_001406839
Location:	EXON
Amino Acid Prediction:	T to N (nonsynonymous)
Amino Acid Position:	162

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQTAATAHSVGWCNGAAEWLCPQPGVRPVSPWEWNGMGLHSWQCGQLRQPPRALRGQRWRAWSRMEPRSPAAAMPGHRTT PEKSKDRGSNTIGARLNRVEDKVTQLDQRLALITDMLHQLLSLHGGSTPGSGGPPREGGAHITQPCGSGGSVDPELFLPS NNLPTYEQLTVPRRGPDEGS*

Gene Symbol:	KCNQ1
Accession:	NM_001406838
Location:	EXON
Amino Acid Prediction:	T to N (nonsynonymous)
Amino Acid Position:	478

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

Gene Symbol:	KCNQ1
Accession:	NM_001406836
Location:	EXON
Amino Acid Prediction:	T to N (nonsynonymous)
Amino Acid Position:	626

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

Gene Symbol:	KCNQ1-AS1
Accession:	NR_130721
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000288573	CLINVAR
	RCV000296682	CLINVAR
	RCV000348188	CLINVAR
	RCV000351682	CLINVAR
	RCV000403357	CLINVAR
dbSNP (RS)	rs377661455	CLINVAR
MedGen	C0022387	CLINVAR
	C0023976	CLINVAR
	C1141890	CLINVAR
	C2348199	CLINVAR
	C3468561	CLINVAR
NCBI Gene	KCNQ1	CLINVAR
	KCNQ1-AS1	CLINVAR
OMIM	192500	CLINVAR
	607542	CLINVAR
SNOMED CT	373905003	CLINVAR
	442917000	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: rs377661455 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: rs377661455 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar