RGD:13803355 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:13803355 -  Homo sapiens

RGD ID: 13803355
RS ID: rs782123500
ClinVar ID: CV572534
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP1A3  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 42,485,793
GRCh38 19 41,981,641
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001256213.2:c.1336-5T>G
NG_008015.1:g.17590T>G
NC_000019.9:g.42485793A>C
NM_152296.4:c.1303-5T>G
More... 		08/22/2022 intron variant likely benign|uncertain significance DYT-ATP1A3; none provided; Rapid-Onset Dystonia-Parkinsonism
Disease Annotations     Click to see Annotation Detail View
dystonia 12  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:ATP1A3
Accession:XM_047438862
Location:INTRON

Gene Symbol:ATP1A3
Accession:NM_001256213
Location:INTRON

Gene Symbol:ATP1A3
Accession:NM_001256214
Location:INTRON

Gene Symbol:ATP1A3
Accession:NM_152296
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000699183 CLINVAR
  RCV000762025 CLINVAR
dbSNP (RS) rs782123500 CLINVAR
MedGen C1868681 CLINVAR
  C3661900 CLINVAR
NCBI Gene ATP1A3 CLINVAR
OMIM 128235 CLINVAR
  182350 CLINVAR