RGD:155748195 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 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
Advanced Search (OLGA)

Variant: RGD:155748195 -  Homo sapiens

RGD ID: 155748195
ClinVar ID: CV1846890
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CREBBP  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 3,828,009
GRCh38 16 3,778,008
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1426t1:c.2113+3A>G
NM_001079846.1:c.1999+3A>G
NM_004380.3:c.2113+3A>G
LRG_1426:g.107706A>G
More... 		06/20/2022 intron variant uncertain significance Broad thumb-hallux syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CREBBP
Accession:XM_011522382
Location:INTRON

Gene Symbol:CREBBP
Accession:XM_006720848
Location:INTRON

Gene Symbol:CREBBP
Accession:XM_047433624
Location:INTRON

Gene Symbol:CREBBP
Accession:XM_005255125
Location:INTRON

Gene Symbol:CREBBP
Accession:XM_011522381
Location:INTRON

Gene Symbol:CREBBP
Accession:NM_004380
Location:INTRON

Gene Symbol:CREBBP
Accession:XM_047433625
Location:INTRON

Gene Symbol:CREBBP
Accession:XM_005255124
Location:INTRON

Gene Symbol:CREBBP
Accession:NM_001079846
Location:INTRON

Gene Symbol:CREBBP
Accession:XM_017022944
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002417515 CLINVAR
  RCV003101065 CLINVAR
MedGen C0035934 CLINVAR
  C0950123 CLINVAR
NCBI Gene CREBBP CLINVAR
OMIM 180849 CLINVAR
  600140 CLINVAR
SNOMED CT 45582004 CLINVAR