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 - TERM ANNOTATION REPORT

RGD ID: 8560799
Species: Homo sapiens
RGD Object: Variant
Symbol: CV23997
Name: NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr)
Acc ID: DOID:9006534
Term: Nervous System Malformations
Definition: Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis.
Definition Source(s): MESH:D009421
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
CV23997 IAGP 8554872ClinVarClinVar Annotator: match by term: Abnormality of the nervous systemPMID:12673791 PMID:17709715 PMID:18363739 PMID:20301431 PMID:21227726 PMID:22854105 PMID:23700290 PMID:25741868 PMID:25919294 PMID:28492532 PMID:28516040 PMID:8682496 PMID:9600456
Go Back to source page   Continue to Ontology report