RGD:13784322 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:13784322 -  Homo sapiens

RGD ID: 13784322
RS ID: rs74485751
ClinVar ID: CV544570
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VPS13B  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 100,844,595
GRCh38 8 99,832,367
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_152564.5:c.9331-2A>T
LRG_351:g.824102A>T
NC_000008.11:g.99832367A>T
NG_007098.2:g.824102A>T
More... 		02/22/2020 splice acceptor variant likely pathogenic|benign AllHighlyPenetrant; Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness; none provided; Pepper syndrome
Disease Annotations     Click to see Annotation Detail View
Cohen syndrome  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:VPS13B
Accession:NM_017890
Location:INTRON

Gene Symbol:VPS13B
Accession:NM_152564
Location:INTRON

Gene Symbol:VPS13B
Accession:NM_181661
Location:INTRON

Gene Symbol:VPS13B
Accession:NM_015243
Location:INTRON

Gene Symbol:VPS13B
Accession:NR_047582
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000670757 CLINVAR
  RCV001698671 CLINVAR
  RCV002249397 CLINVAR
dbSNP (RS) rs74485751 CLINVAR
MedGen C0265223 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene VPS13B CLINVAR
OMIM 216550 CLINVAR
  607817 CLINVAR
SNOMED CT 56604005 CLINVAR