RGD:11647212 Rat Genome Database

Variant: RGD:11647212 - Homo sapiens

RGD ID:

11647212

RS ID:

rs886048010

ClinVar ID:

CV313299

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

KCNJ5

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	11	128,781,968
GRCh38	11	128,912,073

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_333t1:c.800G>A LRG_333:g.25656G>A NG_023406.2:g.25656G>A NC_000011.10:g.128912073G>A More...	06/14/2016	missense variant	uncertain significance	Familial hyperaldosteronism type 3; Familial long QT syndrome; FH III; Romano-Ward syndrome; Ventricular fibrillation with prolonged QT interval

Disease Annotations Click to see Annotation Detail View

Familial Hyperaldosteronism, Type III (IAGP)

long QT syndrome (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Prolonged QT interval (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	KCNJ5
Accession:	XM_011542810
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	267

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGDSRNAMNQDMEIGVTPWDPKKIPKQARDYVPIATDRTRLLAEGKKPRQRYMEKSGKCNVHHGNVQETYRYLSDLFTT LVDLKWRFNLLVFTMVYTVTWLFFGFIWWLIAYIRGDLDHVGDQEWIPCVENLSGFVSAFLFSIETETTIGYGFRVITEK CPEGIILLLVQAILGSIVNAFMVGCMFVKISQPKKRAETLMFSNNAVISMRDEKLCLMFRVGDLRNSHIVEASIRAKLIK SRQTKEGEFIPLNQTDINVGFDTGDDHLFLVSPLIISHEINQKSPFWEMSQAQLHQEEFEVVVILEGMVEATGMTCQARS SYMDTEVLWGHRFTPVLTLEKGFYEVDYNTFHDTYETNTPSCCAKELAEMKREGRLLQYLPSPPLLGGCAEAGLDAEAEQ NEEDEPKGLGGSREARGSV*

Gene Symbol:	KCNJ5
Accession:	NM_000890
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	267

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGDSRNAMNQDMEIGVTPWDPKKIPKQARDYVPIATDRTRLLAEGKKPRQRYMEKSGKCNVHHGNVQETYRYLSDLFTT LVDLKWRFNLLVFTMVYTVTWLFFGFIWWLIAYIRGDLDHVGDQEWIPCVENLSGFVSAFLFSIETETTIGYGFRVITEK CPEGIILLLVQAILGSIVNAFMVGCMFVKISQPKKRAETLMFSNNAVISMRDEKLCLMFRVGDLRNSHIVEASIRAKLIK SRQTKEGEFIPLNQTDINVGFDTGDDHLFLVSPLIISHEINQKSPFWEMSQAQLHQEEFEVVVILEGMVEATGMTCQARS SYMDTEVLWGHRFTPVLTLEKGFYEVDYNTFHDTYETNTPSCCAKELAEMKREGRLLQYLPSPPLLGGCAEAGLDAEAEQ NEEDEPKGLGGSREARGSV*

Gene Symbol:	KCNJ5
Accession:	NM_001354169
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	267

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGDSRNAMNQDMEIGVTPWDPKKIPKQARDYVPIATDRTRLLAEGKKPRQRYMEKSGKCNVHHGNVQETYRYLSDLFTT LVDLKWRFNLLVFTMVYTVTWLFFGFIWWLIAYIRGDLDHVGDQEWIPCVENLSGFVSAFLFSIETETTIGYGFRVITEK CPEGIILLLVQAILGSIVNAFMVGCMFVKISQPKKRAETLMFSNNAVISMRDEKLCLMFRVGDLRNSHIVEASIRAKLIK SRQTKEGEFIPLNQTDINVGFDTGDDHLFLVSPLIISHEINQKSPFWEMSQAQLHQEEFEVVVILEGMVEATGMTCQARS SYMDTEVLWGHRFTPVLTLEKGFYEVDYNTFHDTYETNTPSCCAKELAEMKREGRLLQYLPSPPLLGGCAEAGLDAEAEQ NEEDEPKGLGGSREARGSV*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000275360	CLINVAR
	RCV000374578	CLINVAR
	RCV003532082	CLINVAR
dbSNP (RS)	rs886048010	CLINVAR
MedGen	C0023976	CLINVAR
	C1141890	CLINVAR
	C3838758	CLINVAR
NCBI Gene	KCNJ5	CLINVAR
OMIM	192500	CLINVAR
	600734	CLINVAR
	613677	CLINVAR
SNOMED CT	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: RGD:11647212 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:11647212 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar