rs587783961 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: rs587783961 -  Homo sapiens

RGD ID: 9683042
RS ID: rs587783961
ClinVar ID: CV168430
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: NIPBL  
Reference Nucleotide: A
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 5 37,020,720
GRCh38 5 37,020,618
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Age of Onset
Prevalence
Trait Synonyms
NM_015384.5:c.5174del
NM_133433.4:c.5174del
NG_006987.2:g.148740del
NC_000005.10:g.37020622del
More... 		02/08/2013 frameshift variant pathogenic antenatal|neonatal/infancy cornelia de lange syndrome occurs in 1 in 10-100,000 live births. Brachmann de Lange syndrome; Typus degenerativus amstelodamensis
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV168430HumanCornelia de Lange syndrome 1  IAGP 8554872ClinVar Annotator: match by term: Cornelia de Lange syndrome 1ClinVarPMID:18414213


.
PMID:18414213  



Database
Acc Id
Source(s)
ClinVar RCV000146628 CLINVAR
dbSNP (RS) rs587783961 CLINVAR
MedGen C4551851 CLINVAR
NCBI Gene NIPBL CLINVAR
OMIM 122470 CLINVAR
  608667 CLINVAR