RGD:13528126 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:13528126 -  Homo sapiens

RGD ID: 13528126
RS ID: rs3020959
ClinVar ID: CV508954
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP2B3  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 152,825,414
GRCh38 X 153,559,956
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_021949.3:c.2839+14G>T
NG_015896.1:g.28835G>T
NC_000023.11:g.153559956G>T
NC_000023.10:g.152825414G>T
More... 		07/14/2021 intron variant benign AllHighlyPenetrant; none provided; OLIVOPONTOCEREBELLAR ATROPHY, X-LINKED; OPCA, X-LINKED; Spinocerebellar ataxia, X-linked 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ATP2B3
Accession:XM_011531177
Location:INTRON

Gene Symbol:ATP2B3
Accession:NM_001410708
Location:INTRON

Gene Symbol:ATP2B3
Accession:NM_001388360
Location:INTRON

Gene Symbol:ATP2B3
Accession:XM_047442141
Location:INTRON

Gene Symbol:ATP2B3
Accession:XM_005274691
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ATP2B3
Accession:NM_001001344
Location:INTRON

Gene Symbol:ATP2B3
Accession:XM_005274689
Location:INTRON

Gene Symbol:ATP2B3
Accession:XM_024452386
Location:INTRON

Gene Symbol:ATP2B3
Accession:NM_001388361
Location:INTRON

Gene Symbol:ATP2B3
Accession:XM_047442142
Location:INTRON

Gene Symbol:ATP2B3
Accession:NM_021949
Location:INTRON

Gene Symbol:ATP2B3
Accession:XM_017029553
Location:INTRON

Gene Symbol:ATP2B3
Accession:NM_001388362
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000601168 CLINVAR
  RCV001613405 CLINVAR
  RCV001726273 CLINVAR
dbSNP (RS) rs3020959 CLINVAR
MedGen C0796205 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene ATP2B3 CLINVAR
OMIM 300014 CLINVAR
  302500 CLINVAR