RGD:28908437 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:28908437 -  Homo sapiens

RGD ID: 28908437
RS ID: rs2080843947
ClinVar ID: CV879944
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CBARP  STK11  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 1,228,317
GRCh38 19 1,228,318
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_319t1:c.*742G>A
NM_152769.3:c.*2575C>T
NM_000455.5:c.*742G>A
LRG_319:g.43912G>A
More... 		01/13/2018 3 prime utr variant uncertain significance Lentiginosis, perioral; Periorificial lentiginosis syndrome; Peutz-Jeghers polyposis; Polyposis, hamartomatous intestinal; Polyps-and-spots syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CBARP
Accession:XM_017026556
Location:3UTRS;EXON

Gene Symbol:CBARP
Accession:XM_017026555
Location:3UTRS;EXON

Gene Symbol:CBARP
Accession:NM_001393918
Location:3UTRS;EXON

Gene Symbol:CBARP
Accession:XM_017026558
Location:3UTRS;EXON

Gene Symbol:STK11
Accession:NM_000455
Location:3UTRS;EXON

Gene Symbol:CBARP
Accession:NM_152769
Location:3UTRS;EXON

Gene Symbol:STK11
Accession:NR_176325
Location:EXON;NON-CODING

Gene Symbol:STK11
Accession:NM_001407255
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001128188 CLINVAR
dbSNP (RS) rs2080843947 CLINVAR
MedGen C0031269 CLINVAR
NCBI Gene CBARP CLINVAR
  STK11 CLINVAR
OMIM 175200 CLINVAR
  602216 CLINVAR
SNOMED CT 54411001 CLINVAR