RGD:11608192 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:11608192 -  Homo sapiens

RGD ID: 11608192
RS ID: rs79953574
ClinVar ID: CV312952
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 133,140,681
GRCh38 8 132,128,434
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.357324T>C
NC_000008.11:g.132128434A>G
NC_000008.10:g.133140681A>G
NM_001204824.2:c.*828T>C
More... 		01/13/2018 3 prime utr variant likely benign|uncertain significance Benign Neonatal Epilepsy 2; CONVULSIONS, BENIGN FAMILIAL NEONATAL, 2; KCNQ3-Related Benign Familial Neonatal Epilepsy; KCNQ3-related Disorders; Seizures, benign neonatal, 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNQ3
Accession:XM_011517026
Location:3UTRS;EXON

Gene Symbol:KCNQ3
Accession:XM_017013400
Location:3UTRS;EXON

Gene Symbol:KCNQ3
Accession:NM_001204824
Location:3UTRS;EXON

Gene Symbol:KCNQ3
Accession:NM_004519
Location:3UTRS;EXON

Gene Symbol:KCNQ3
Accession:XM_047421769
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000310989 CLINVAR
  RCV000351841 CLINVAR
dbSNP (RS) rs79953574 CLINVAR
MedGen C0270851 CLINVAR
  C1852581 CLINVAR
NCBI Gene KCNQ3 CLINVAR
OMIM 121201 CLINVAR
  602232 CLINVAR