RGD:405179619 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:405179619 -  Homo sapiens

RGD ID: 405179619
ClinVar ID: CV3081237
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EPB42  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 43,500,827
GRCh38 15 43,208,629
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1171t1:c.1061+8G>A
NM_000119.3:c.1061+8G>A
NM_001114134.2:c.971+8G>A
LRG_1171:g.22228G>A
More... 		11/28/2023 intron variant uncertain significance EPB42-Related Spherocytosis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EPB42
Accession:XM_011521351
Location:INTRON

Gene Symbol:EPB42
Accession:XM_011521354
Location:INTRON

Gene Symbol:EPB42
Accession:XM_011521353
Location:INTRON

Gene Symbol:EPB42
Accession:XM_005254225
Location:INTRON

Gene Symbol:EPB42
Accession:NM_000119
Location:INTRON

Gene Symbol:EPB42
Accession:XM_011521350
Location:INTRON

Gene Symbol:EPB42
Accession:XM_011521352
Location:INTRON

Gene Symbol:EPB42
Accession:NM_001114134
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003639373 CLINVAR
MedGen C2675192 CLINVAR
NCBI Gene EPB42 CLINVAR
OMIM 177070 CLINVAR
  612690 CLINVAR