RGD:8643251 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:8643251 -  Homo sapiens

RGD ID: 8643251
RS ID: rs78827246
ClinVar ID: CV102234
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NIPBL  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 37,001,074
GRCh38 5 37,000,972
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000005.10:g.37000972A>G
NC_000005.9:g.37001074A>G
NM_015384.5:c.3575-17A>G
NM_133433.4:c.3575-17A>G
More... 		03/03/2015 intron|intron variant benign|likely benign|conflicting interpretations of pathogenicity AllHighlyPenetrant; Brachmann de Lange syndrome; none provided; Typus degenerativus amstelodamensis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NIPBL
Accession:NM_133433
Location:INTRON

Gene Symbol:NIPBL
Accession:NM_015384
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_011514015
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_006714467
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_005248280
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_005248282
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_017009329
Location:INTRON

Gene Symbol:NIPBL
Accession:XM_006714468
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:18414213   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000082489 CLINVAR
  RCV001636652 CLINVAR
  RCV001807038 CLINVAR
dbSNP (RS) rs78827246 CLINVAR
MedGen C3661900 CLINVAR
  C4551851 CLINVAR
  CN169374 CLINVAR
NCBI Gene NIPBL CLINVAR
OMIM 122470 CLINVAR
  608667 CLINVAR