RGD:28899824 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:28899824 -  Homo sapiens

RGD ID: 28899824
RS ID: rs747240221
ClinVar ID: CV893187
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NR3C1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 142,814,800
GRCh38 5 143,435,235
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000005.9:g.142814800T>A
NM_001018075.1:c.-14+66A>T
NM_001018074.1:c.-45A>T
NG_009062.1:g.5278A>T
More... 		01/13/2018 5 prime utr variant uncertain significance Cortisol resistance from glucocorticoid receptor defect; GCCR DEFICIENCY; Gcr deficiency; Glucocorticoid receptor deficiency; Glucocorticoid resistance, generalized
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NR3C1
Accession:NM_001018077
Location:5UTRS;EXON

Gene Symbol:NR3C1
Accession:NM_001018074
Location:5UTRS;EXON

Gene Symbol:NR3C1
Accession:NM_001018075
Location:5UTRS;INTRON

Gene Symbol:NR3C1
Accession:NM_001018076
Location:INTRON

Gene Symbol:NR3C1
Accession:NM_001204264
Location:INTRON

Gene Symbol:NR3C1
Accession:NM_001364181
Location:INTRON

Gene Symbol:NR3C1
Accession:NM_001364182
Location:INTRON

Gene Symbol:NR3C1
Accession:NM_001020825
Location:INTRON

Gene Symbol:NR3C1
Accession:NM_000176
Location:INTRON

Gene Symbol:NR3C1
Accession:NM_001204259
Location:INTRON

Gene Symbol:NR3C1
Accession:NM_001204261
Location:INTRON

Gene Symbol:NR3C1
Accession:NM_001204263
Location:INTRON

Gene Symbol:NR3C1
Accession:NM_001204258
Location:INTRON

Gene Symbol:NR3C1
Accession:NM_001364183
Location:INTRON

Gene Symbol:NR3C1
Accession:NM_001204260
Location:INTRON

Gene Symbol:NR3C1
Accession:NM_001024094
Location:INTRON

Gene Symbol:NR3C1
Accession:NM_001204265
Location:INTRON

Gene Symbol:NR3C1
Accession:NM_001364184
Location:INTRON

Gene Symbol:NR3C1
Accession:NM_001204262
Location:INTRON

Gene Symbol:NR3C1
Accession:NM_001364180
Location:INTRON

Gene Symbol:NR3C1
Accession:NM_001364185
Location:INTRON

Gene Symbol:NR3C1
Accession:NR_157096
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001155991 CLINVAR
dbSNP (RS) rs747240221 CLINVAR
MedGen C1841972 CLINVAR
NCBI Gene NR3C1 CLINVAR
OMIM 138040 CLINVAR
  615962 CLINVAR