RGD:8560627 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant: RGD:8560627 -  Homo sapiens

RGD ID: 8560627
RS ID: rs80356616
ClinVar ID: CV23706
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ11  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 17,409,464
GRCh38 11 17,387,917
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_012446.1:g.5743G>A
NC_000011.10:g.17387917C>T
NC_000011.9:g.17409464C>T
NP_000516.3:p.Val59Met
More... 		09/24/2021 intron|intron variant|missense|missense variant pathogenic|benign|not provided neonatal/infancy the estimated incidence of permanent neonatal diabetes ranges from 1:215,000 to 1:260,000 live births none provided; Permanent diabetes mellitus of infancy; Transient neonatal diabetes mellitus
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:KCNJ11
Accession:NM_001166290
Location:5UTRS;INTRON

Gene Symbol:KCNJ11
Accession:NM_001377297
Location:5UTRS;INTRON

Gene Symbol:KCNJ11
Accession:NM_001377296
Location:5UTRS;INTRON

Gene Symbol:KCNJ11
Accession:NM_000525
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 59
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSRKGIIPEEYVLTRLAEDPAKPRYRARQRRARFVSKKGNCNVAHKNIREQGRFLQDMFTTLVDLKWPHTLLIFTMSFL
CSWLLFAMAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMIN
AIMLGCIFMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPM
ENGVGGNSIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVA
EEDGRYSVDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*
Variant Samples
Additional References at PubMed
PMID:15115830   PMID:15448107   PMID:15580558   PMID:15583126   PMID:16123337   PMID:16670688   PMID:18414213   PMID:19065048   PMID:20301620   PMID:25741868   PMID:26839896   PMID:27681997  
PMID:28492532   PMID:32792356   PMID:32893419   PMID:33816067  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000009201 CLINVAR
  RCV000030665 CLINVAR
  RCV000146104 CLINVAR
  RCV000724752 CLINVAR
  RCV002051778 CLINVAR
  RCV002227022 CLINVAR
dbSNP (RS) rs80356616 CLINVAR
MedGen C0158981 CLINVAR
  C0342273 CLINVAR
  C1833104 CLINVAR
  C3278636 CLINVAR
  C3661900 CLINVAR
  C5394296 CLINVAR
NCBI Gene KCNJ11 CLINVAR
OMIM 600937 CLINVAR
  606176 CLINVAR
  618856 CLINVAR
OMIM Allele 600937.0003 CLINVAR
SNOMED CT 237603002 CLINVAR
  49817004 CLINVAR