RGD:28906610 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:28906610 -  Homo sapiens

RGD ID: 28906610
RS ID: rs562371430
ClinVar ID: CV896671
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BAG2  RAB23  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 57,052,130
GRCh38 6 57,187,332
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_183227.2:c.*3129G>C
NM_016277.5:c.*3129G>C
NM_004282.4:c.*3142C>G
NG_012170.1:g.39949G>C
More... 		01/13/2018 3 prime utr variant uncertain significance ACPS 2; ACPS II; Acrocephalopolysyndactyly type 2; Acrocephalopolysyndactyly Type II; Carpenter syndrome 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BAG2
Accession:NM_004282
Location:3UTRS;EXON

Gene Symbol:RAB23
Accession:NM_183227
Location:3UTRS;EXON

Gene Symbol:BAG2
Accession:XM_005249490
Location:3UTRS;EXON

Gene Symbol:BAG2
Accession:XM_011514999
Location:3UTRS;EXON

Gene Symbol:RAB23
Accession:NM_001278668
Location:3UTRS;EXON

Gene Symbol:RAB23
Accession:NM_016277
Location:3UTRS;EXON

Gene Symbol:RAB23
Accession:NM_001278666
Location:3UTRS;EXON

Gene Symbol:RAB23
Accession:NM_001278667
Location:3UTRS;EXON

Gene Symbol:RAB23
Accession:NR_103822
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001159054 CLINVAR
dbSNP (RS) rs562371430 CLINVAR
MedGen C4551510 CLINVAR
NCBI Gene BAG2 CLINVAR
  RAB23 CLINVAR
OMIM 201000 CLINVAR
  603882 CLINVAR
  606144 CLINVAR