RGD:12840662 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:12840662 -  Homo sapiens

RGD ID: 12840662
RS ID: rs761923188
ClinVar ID: CV371521
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 133,144,523
GRCh38 8 132,132,276
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008854.2:g.353482G>A
NC_000008.11:g.132132276C>T
NC_000008.10:g.133144523C>T
NM_001204824.1:c.1440-12G>A
More... 		12/08/2022 intron variant likely benign|conflicting interpretations of pathogenicity AllHighlyPenetrant; Autosomal dominant form of benign neonatal seizures; Benign familial neonatal seizures; Benign neonatal familial convulsions; Convulsions benign familial neonatal dominant form
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNQ3
Accession:XM_017013400
Location:INTRON

Gene Symbol:KCNQ3
Accession:NM_004519
Location:INTRON

Gene Symbol:KCNQ3
Accession:XM_047421769
Location:INTRON

Gene Symbol:KCNQ3
Accession:XM_011517026
Location:INTRON

Gene Symbol:KCNQ3
Accession:NM_001204824
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000431143 CLINVAR
  RCV002062553 CLINVAR
dbSNP (RS) rs761923188 CLINVAR
MedGen C0220669 CLINVAR
  CN169374 CLINVAR
NCBI Gene KCNQ3 CLINVAR
OMIM 602232 CLINVAR
SNOMED CT 230410004 CLINVAR