RGD:597775547 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:597775547 -  Homo sapiens

RGD ID: 597775547
ClinVar ID: CV3643995
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACTR1B  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 98,273,423
GRCh38 2 97,656,960
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NP_005726.1:p.Gly343=
NM_005735.4:c.1029C>T
NC_000002.12:g.97656960G>A
NC_000002.11:g.98273423G>A
More... 		09/09/2024 synonymous variant likely benign AllHighlyPenetrant

Gene Symbol:ACTR1B
Accession:NM_005735
Location:INTRON

Gene Symbol:ACTR1B
Accession:XM_005263854
Location:INTRON

Gene Symbol:ACTR1B
Accession:XM_017003116
Location:INTRON

.


Database
Acc Id
Source(s)
ClinVar RCV004898265 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ACTR1B CLINVAR
OMIM 605144 CLINVAR