RGD:9682578 Rat Genome Database

Variant: RGD:9682578 - Homo sapiens

RGD ID:

9682578

RS ID:

rs5214

ClinVar ID:

CV168862

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

KCNJ11 LOC127820554

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	11	17,408,550
GRCh38	11	17,387,003

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
NG_012446.1:g.6657A>G NC_000011.10:g.17387003T>C NC_000011.9:g.17408550T>C NP_000516.3:p.Ser363= More...	09/25/2020	synonymous variant	benign\|likely benign\|uncertain significance	AllHighlyPenetrant; HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT; HYPERINSULINISM, NEONATAL; Mason type diabetes; MODY, TYPE 13; none provided; Permanent diabetes mellitus of infancy

Disease Annotations Click to see Annotation Detail View

familial hyperinsulinemic hypoglycemia 2 (IAGP)

genetic disease (IAGP)

maturity-onset diabetes of the young (IAGP)

maturity-onset diabetes of the young type 13 (IAGP)

permanent neonatal diabetes mellitus (IAGP)

Transient Neonatal Diabetes Mellitus, 3 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	KCNJ11
Accession:	NM_000525
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	363

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSRKGIIPEEYVLTRLAEDPAKPRYRARQRRARFVSKKGNCNVAHKNIREQGRFLQDVFTTLVDLKWPHTLLIFTMSFL CSWLLFAMAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMIN AIMLGCIFMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPM ENGVGGNSIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVA EEDGRYSVDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*

Gene Symbol:	KCNJ11
Accession:	NM_001377297
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	276

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMINAIMLGCI FMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPMENGVGGN SIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYS VDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*

Gene Symbol:	KCNJ11
Accession:	NM_001377296
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	276

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMINAIMLGCI FMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPMENGVGGN SIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYS VDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*

Gene Symbol:	KCNJ11
Accession:	NM_001166290
Location:	EXON
Amino Acid Prediction:	S to S (synonymous)
Amino Acid Position:	276

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMINAIMLGCI FMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPMENGVGGN SIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYS VDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:15580558	PMID:15718250	PMID:18414213	PMID:22701567	PMID:25741868	PMID:26448950	PMID:28492532	PMID:32935446

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000146100	CLINVAR
	RCV000315234	CLINVAR
	RCV000364041	CLINVAR
	RCV000390216	CLINVAR
	RCV000969056	CLINVAR
	RCV001831929	CLINVAR
	RCV002227071	CLINVAR
	RCV002426703	CLINVAR
dbSNP (RS)	rs5214	CLINVAR
MedGen	C0342276	CLINVAR
	C0950123	CLINVAR
	C1833104	CLINVAR
	C1864623	CLINVAR
	C2931833	CLINVAR
	C3661900	CLINVAR
	C4225365	CLINVAR
	CN169374	CLINVAR
NCBI Gene	KCNJ11	CLINVAR
OMIM	600937	CLINVAR
	601820	CLINVAR
	606176	CLINVAR
	606391	CLINVAR
	610582	CLINVAR
	616329	CLINVAR
SNOMED CT	28453007	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)

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Variant: RGD:9682578 - Homo sapiens

Imported Disease Annotations - ClinVar