RGD:150334265 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:150334265 -  Homo sapiens

RGD ID: 150334265
RS ID: rs749278134
ClinVar ID: CV1171149
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1D  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 53,700,327
GRCh38 3 53,666,300
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001128840.3:c.920-39T>G
NG_032999.1:g.176252T>G
NC_000003.12:g.53666300T>G
NC_000003.11:g.53700327T>G
More... 		08/24/2020 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CACNA1D
Accession:NM_001128840
Location:INTRON

Gene Symbol:CACNA1D
Accession:NM_001128839
Location:INTRON

Gene Symbol:CACNA1D
Accession:NM_000720
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_005265448
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_011534094
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_011534100
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_011534096
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_011534097
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_011534099
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_017007141
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_017007137
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_017007139
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_017007142
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_017007145
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_017007143
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_017007138
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_017007140
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_017007144
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_047448874
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_047448871
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_047448872
Location:INTRON

Gene Symbol:CACNA1D
Accession:XM_047448873
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001539932 CLINVAR
dbSNP (RS) rs749278134 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CACNA1D CLINVAR
OMIM 114206 CLINVAR