RGD:156043519 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:156043519 -  Homo sapiens

RGD ID: 156043519
ClinVar ID: CV2026497
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD40  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 44,751,753
GRCh38 20 46,123,114
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001322421.2:c.404-12A>C
NM_001362758.2:c.404-12A>C
NM_152854.4:c.404-12A>C
LRG_40:g.9848A>C
More... 		09/17/2022 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CD40
Accession:XM_017028136
Location:INTRON

Gene Symbol:CD40
Accession:NM_001362758
Location:INTRON

Gene Symbol:CD40
Accession:XM_017028135
Location:INTRON

Gene Symbol:CD40
Accession:NM_001250
Location:INTRON

Gene Symbol:CD40
Accession:NM_152854
Location:INTRON

Gene Symbol:CD40
Accession:XM_011529109
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:CD40
Accession:NM_001302753
Location:INTRON

Gene Symbol:CD40
Accession:XM_047440601
Location:INTRON

Gene Symbol:CD40
Accession:NM_001322421
Location:INTRON

Gene Symbol:CD40
Accession:NM_001322422
Location:INTRON

Gene Symbol:CD40
Accession:NM_001424339
Location:INTRON

Gene Symbol:CD40
Accession:NR_136327
Location:INTRON;NON-CODING

Gene Symbol:CD40
Accession:NR_126502
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002736273 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CD40 CLINVAR
OMIM 109535 CLINVAR