RGD:12837501 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:12837501 -  Homo sapiens

RGD ID: 12837501
RS ID: rs1057523208
ClinVar ID: CV378722
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMARCB1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 24,176,315
GRCh38 22 23,834,128
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_520:g.52166A>G
NG_009303.1:g.52166A>G
NC_000022.11:g.23834128A>G
NC_000022.10:g.24176315A>G
More... 		08/17/2016 intron variant likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:SMARCB1
Accession:NM_001317946
Location:INTRON

Gene Symbol:SMARCB1
Accession:NM_003073
Location:INTRON

Gene Symbol:SMARCB1
Accession:NM_001007468
Location:INTRON

Gene Symbol:SMARCB1
Accession:NM_001362877
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000425275 CLINVAR
  RCV002063429 CLINVAR
dbSNP (RS) rs1057523208 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene SMARCB1 CLINVAR
OMIM 601607 CLINVAR