RGD:150417277 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:150417277 -  Homo sapiens

RGD ID: 150417277
RS ID: rs372041159
ClinVar ID: CV1181712
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1A  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 13,338,180
GRCh38 19 13,227,366
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001127222.2:c.5625+65T>C
NM_001127221.2:c.5628+1333T>C
NM_001174080.2:c.5634+65T>C
NM_000068.4:c.5643+65T>C
More... 		08/21/2019 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CACNA1A
Accession:NM_000068
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_001127222
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_001127221
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_023035
Location:INTRON

Gene Symbol:CACNA1A
Accession:NM_001174080
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001550049 CLINVAR
dbSNP (RS) rs372041159 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CACNA1A CLINVAR
OMIM 601011 CLINVAR