RGD:243054942 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:243054942 -  Homo sapiens

RGD ID: 243054942
ClinVar ID: CV2410553
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPTB  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 65,258,436
GRCh38 14 64,791,718
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1130t1:c.2804+1G>A
LRG_1130t2:c.2804+1G>A
NC_000014.9:g.64791718C>T
NC_000014.8:g.65258436C>T
More... 		09/22/2022 splice donor variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:SPTB
Accession:XM_017021612
Location:INTRON

Gene Symbol:SPTB
Accession:NM_001024858
Location:INTRON

Gene Symbol:SPTB
Accession:XM_024449699
Location:INTRON

Gene Symbol:SPTB
Accession:NM_001355436
Location:INTRON

Gene Symbol:SPTB
Accession:XM_047431725
Location:INTRON

Gene Symbol:SPTB
Accession:XM_011537105
Location:INTRON

Gene Symbol:SPTB
Accession:XM_047431724
Location:INTRON

Gene Symbol:SPTB
Accession:NM_001355437
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003131665 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SPTB CLINVAR
OMIM 182870 CLINVAR