RGD:156283949 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:156283949 -  Homo sapiens

RGD ID: 156283949
ClinVar ID: CV1877278
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCND3  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 112,318,904
GRCh38 1 111,776,282
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001378970.1:c.1710-4C>G
NM_172198.3:c.1710-4C>G
NM_001378969.1:c.1767-4C>G
NM_004980.5:c.1767-4C>G
More... 		03/26/2022 intron variant likely benign Spinocerebellar ataxia 19; Spinocerebellar ataxia 22
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCND3
Accession:NM_172198
Location:INTRON

Gene Symbol:KCND3
Accession:NM_004980
Location:INTRON

Gene Symbol:KCND3
Accession:XM_006710629
Location:INTRON

Gene Symbol:KCND3
Accession:XM_006710632
Location:INTRON

Gene Symbol:KCND3
Accession:XM_011541427
Location:INTRON

Gene Symbol:KCND3
Accession:XM_011541428
Location:INTRON

Gene Symbol:KCND3
Accession:XM_011541426
Location:INTRON

Gene Symbol:KCND3
Accession:XM_011541425
Location:INTRON

Gene Symbol:KCND3
Accession:XM_017001244
Location:INTRON

Gene Symbol:KCND3
Accession:XM_017001245
Location:INTRON

Gene Symbol:KCND3
Accession:NM_001378970
Location:INTRON

Gene Symbol:KCND3
Accession:NM_001378969
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003061169 CLINVAR
MedGen C1846367 CLINVAR
NCBI Gene KCND3 CLINVAR
OMIM 605411 CLINVAR
  607346 CLINVAR