RGD:15154270 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:15154270 -  Homo sapiens

RGD ID: 15154270
RS ID: rs3751662
ClinVar ID: CV778369
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNA1H  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 1,244,964
GRCh38 16 1,194,964
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_021098.3:c.300-8G>A
NG_012647.1:g.46724G>A
NC_000016.10:g.1194964G>A
NC_000016.9:g.1244964G>A
More... 		11/28/2018 intron variant benign ALDOSTERONISM, PRIMARY, AND HYPERTENSION; EIG; FH IV; Generalised epilepsy; Hyperaldosteronism, familial, type IV
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CACNA1H
Accession:XM_006720967
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_006720963
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_011522727
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_047434836
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_006720968
Location:INTRON

Gene Symbol:CACNA1H
Accession:NM_021098
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_006720964
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_017023819
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_017023820
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_006720965
Location:INTRON

Gene Symbol:CACNA1H
Accession:NM_001005407
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_005255652
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_017023821
Location:INTRON

Gene Symbol:CACNA1H
Accession:XM_011522724
Location:INTRON

Gene Symbol:CACNA1H
Accession:XR_002957850
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000946253 CLINVAR
dbSNP (RS) rs3751662 CLINVAR
MedGen C0270850 CLINVAR
NCBI Gene CACNA1H CLINVAR
OMIM 600669 CLINVAR
  607904 CLINVAR
  617027 CLINVAR
SNOMED CT 36803009 CLINVAR