RGD:13808658 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:13808658 -  Homo sapiens

RGD ID: 13808658
RS ID: rs1558056376
ClinVar ID: CV558288
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1S  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 201,020,111
GRCh38 1 201,050,983
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.201050983C>G
NC_000001.10:g.201020111C>G
NM_000069.3:c.4113+1G>C
NG_009816.2:g.66584G>C
More... 		04/11/2023 splice donor variant likely pathogenic HypoPP; Malignant hyperpyrexia susceptibility type 5; Malignant hyperthermia susceptibility type 5; MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CACNA1S
Accession:NM_000069
Location:INTRON

Gene Symbol:CACNA1S
Accession:XM_005245478
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:25741868   PMID:26247046   PMID:28012042   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000687375 CLINVAR
  RCV001784310 CLINVAR
  RCV003446347 CLINVAR
  RCV003486917 CLINVAR
dbSNP (RS) rs1558056376 CLINVAR
MedGen C1866077 CLINVAR
  C3661900 CLINVAR
  C3714580 CLINVAR
NCBI Gene CACNA1S CLINVAR
OMIM 114208 CLINVAR
  170400 CLINVAR
  601887 CLINVAR