rs2052613493 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 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
Advanced Search (OLGA)

Variant: rs2052613493 -  Homo sapiens

RGD ID: 40887243
RS ID: rs2052613493
ClinVar ID: CV974215
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DYRK1A  LOC105372797  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 21 38,853,130
GRCh38 21 37,480,828
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_130438.2:c.516+2T>C
NG_009366.1:g.118272T>C
NC_000021.8:g.38853130T>C
NM_001347722.2:c.489+2T>C
More... 		11/20/2019 splice donor variant pathogenic INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 7
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV974215Humanautosomal dominant intellectual developmental disorder 7  IAGP 8554872ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndromeClinVarPMID:25707398|PMID:25741868
CV974215Humangenetic disease  IAGP 8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:25707398|PMID:25741868
Gene Symbol:DYRK1A
Accession:NM_130438
Location:INTRON

Gene Symbol:DYRK1A
Accession:NM_001396
Location:INTRON

Gene Symbol:DYRK1A
Accession:NM_001347722
Location:INTRON

Gene Symbol:DYRK1A
Accession:NM_101395
Location:INTRON

Gene Symbol:DYRK1A
Accession:NM_001347723
Location:INTRON

Gene Symbol:DYRK1A
Accession:NM_001347721
Location:INTRON

Gene Symbol:DYRK1A
Accession:NM_130436
Location:INTRON

Gene Symbol:LOC105372797
Accession:XR_002958655
Location:INTRON;NON-CODING

Gene Symbol:LOC105372797
Accession:XR_002958654
Location:INTRON;NON-CODING

Gene Symbol:LOC105372797
Accession:XR_001755034
Location:INTRON;NON-CODING

.
PMID:25707398   PMID:25741868  



Database
Acc Id
Source(s)
ClinVar RCV001266728 CLINVAR
  RCV003120519 CLINVAR
dbSNP (RS) rs2052613493 CLINVAR
MedGen C0950123 CLINVAR
  C5568143 CLINVAR
NCBI Gene DYRK1A CLINVAR
OMIM 600855 CLINVAR
  614104 CLINVAR