RGD:13614257 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:13614257 -  Homo sapiens

RGD ID: 13614257
RS ID: rs767905628
ClinVar ID: CV527301
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1C  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 2,676,967
GRCh38 12 2,567,801
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001129834.2:c.1895+7G>A
LRG_334t1:c.1895+7G>A
NM_001129827.2:c.1895+7G>A
NG_008801.2:g.602016G>A
More... 		10/31/2017 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CACNA1C
Accession:NM_001167625
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129833
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129832
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129829
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129846
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_047429515
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129834
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_011521023
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019934
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019943
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019946
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019939
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019932
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_047429514
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129831
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129839
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129836
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_047429513
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_047429518
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_047429520
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001167624
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129827
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129844
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019955
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129840
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019927
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019929
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019931
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129837
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129841
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129843
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129830
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019933
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019953
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019926
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019928
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_047429516
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_047429519
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_199460
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_006719017
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019949
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019945
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129838
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019935
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019950
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129835
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_011521020
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019954
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019944
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001167623
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019947
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019948
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_047429517
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_001129842
Location:INTRON

Gene Symbol:CACNA1C
Accession:NM_000719
Location:INTRON

Gene Symbol:CACNA1C
Accession:XM_017019930
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000631836 CLINVAR
dbSNP (RS) rs767905628 CLINVAR
MedGen C0023976 CLINVAR
NCBI Gene CACNA1C CLINVAR
OMIM 114205 CLINVAR
SNOMED CT 9651007 CLINVAR