RGD:11626061 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:11626061 -  Homo sapiens

RGD ID: 11626061
RS ID: rs28730842
ClinVar ID: CV339854
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRKAR1A  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 66,526,728
GRCh38 17 68,530,587
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001276289.2:c.*138C>A
NM_002734.5:c.*138C>A
NM_212471.3:c.*138C>A
NM_001276290.1:c.973+586C>A
More... 		06/23/2018 3 prime utr variant likely benign Arkless-Graham syndrome; Carney syndrome; Maroteaux-Malamut syndrome; Myxoma, spotty pigmentation, and endocrine overactivity; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PRKAR1A
Accession:XM_047436370
Location:3UTRS;EXON

Gene Symbol:PRKAR1A
Accession:NM_001278433
Location:3UTRS;EXON

Gene Symbol:PRKAR1A
Accession:NM_212472
Location:3UTRS;EXON

Gene Symbol:PRKAR1A
Accession:NM_002734
Location:3UTRS;EXON

Gene Symbol:PRKAR1A
Accession:NM_001276289
Location:3UTRS;EXON

Gene Symbol:PRKAR1A
Accession:NM_001369390
Location:3UTRS;EXON

Gene Symbol:PRKAR1A
Accession:XM_011524984
Location:3UTRS;EXON

Gene Symbol:PRKAR1A
Accession:NM_001369389
Location:3UTRS;EXON

Gene Symbol:PRKAR1A
Accession:NM_212471
Location:3UTRS;EXON

Gene Symbol:PRKAR1A
Accession:XM_047436369
Location:3UTRS;EXON

Gene Symbol:PRKAR1A
Accession:NM_001276290
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000298624 CLINVAR
  RCV000406657 CLINVAR
  RCV001582966 CLINVAR
dbSNP (RS) rs28730842 CLINVAR
MedGen C0220659 CLINVAR
  C0406810 CLINVAR
  C3661900 CLINVAR
NCBI Gene PRKAR1A CLINVAR
OMIM 160980 CLINVAR
  188830 CLINVAR
SNOMED CT 66758006 CLINVAR