RGD:14693869 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:14693869 -  Homo sapiens

RGD ID: 14693869
RS ID: rs200048290
ClinVar ID: CV619103
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: APOB  LOC106560211  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 21,263,961
GRCh38 2 21,041,089
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011793.1:g.7985T>C
NC_000002.12:g.21041089A>G
NC_000002.11:g.21263961A>G
NM_000384.3:c.238-6T>C
More... 		01/01/2019 intron variant benign Acanthocytosis with hypobetalipoproteinemia; APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE; APOLIPOPROTEIN B-100, FAMILIAL LIGAND-DEFECTIVE; Familial hypercholesterolemia 2; Familial Hypercholesterolemia Type B; Familial hypobetalipoproteinemia 1; HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B; Hyperlipoproteinemia Type IIb; HYPOBETALIPOPROTEINEMIA, FAMILIAL; Hypobetalipoproteinemia, normotriglyceridemic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:APOB
Accession:NM_000384
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000771619 CLINVAR
  RCV001838149 CLINVAR
dbSNP (RS) rs200048290 CLINVAR
MedGen C0020445 CLINVAR
  C1704417 CLINVAR
NCBI Gene 106560211 CLINVAR
  APOB CLINVAR
OMIM 107730 CLINVAR
  144010 CLINVAR
  615558 CLINVAR
SNOMED CT 398036000 CLINVAR