RGD:10396273 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:10396273 -  Homo sapiens

RGD ID: 10396273
RS ID: rs185511111
ClinVar ID: CV202160
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ3  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 133,142,243
GRCh38 8 132,129,996
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.355762G>C
NC_000008.11:g.132129996C>G
NC_000008.10:g.133142243C>G
NM_004519.2:c.1885G>C
More... 		12/21/2018 missense variant pathogenic|uncertain significance AllHighlyPenetrant; Autosomal dominant form of benign neonatal seizures; Benign familial neonatal seizures; Benign Neonatal Epilepsy 2; Benign neonatal familial convulsions; Convulsions benign familial neonatal dominant form; CONVULSIONS, BENIGN FAMILIAL NEONATAL, 2; KCNQ3-Related Benign Familial Neonatal Epilepsy; KCNQ3-related Disorders; none provided; Rolandic epilepsy; Seizures, benign neonatal, 2

Variant Details
Variant Transcripts
Gene Symbol:KCNQ3
Accession:NM_004519
Location:INTRON

Gene Symbol:KCNQ3
Accession:NM_001204824
Location:INTRON

Gene Symbol:KCNQ3
Accession:XM_017013400
Location:INTRON

Gene Symbol:KCNQ3
Accession:XM_011517026
Location:INTRON

Gene Symbol:KCNQ3
Accession:XM_047421769
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532   PMID:29358611  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000188010 CLINVAR
  RCV000471330 CLINVAR
  RCV000656018 CLINVAR
  RCV000765988 CLINVAR
  RCV000767106 CLINVAR
  RCV002408842 CLINVAR
dbSNP (RS) rs185511111 CLINVAR
MedGen C0220669 CLINVAR
  C0376532 CLINVAR
  C0950123 CLINVAR
  C1852581 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene KCNQ3 CLINVAR
OMIM 121201 CLINVAR
  602232 CLINVAR
SNOMED CT 230410004 CLINVAR