RGD:156445969 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:156445969 -  Homo sapiens

RGD ID: 156445969
ClinVar ID: CV1950993
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ERBB2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 37,868,315
GRCh38 17 39,712,062
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001382791.1:c.1012+15C>T
NM_001289937.2:c.1021+15C>T
NM_001382784.1:c.1021+15C>T
NM_001382785.1:c.1021+15C>T
More... 		05/21/2022 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ERBB2
Accession:NM_001382790
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382806
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382784
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382796
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382801
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001289936
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382798
Location:INTRON

Gene Symbol:ERBB2
Accession:XM_047435590
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001289937
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382789
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001005862
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382805
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001289938
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382783
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382793
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382787
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382786
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382804
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382792
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382797
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382802
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382799
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382791
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_004448
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382785
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382795
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382782
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382788
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382800
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382803
Location:INTRON

Gene Symbol:ERBB2
Accession:NM_001382794
Location:INTRON

Gene Symbol:ERBB2
Accession:NR_110535
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003116932 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ERBB2 CLINVAR
OMIM 164870 CLINVAR