RGD:15135544 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:15135544 -  Homo sapiens

RGD ID: 15135544
RS ID: rs779086352
ClinVar ID: CV744892
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NEDD4  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 56,148,320
GRCh38 15 55,856,122
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001284338.2:c.2283+9T>C
NM_001284338.1:c.2283+9T>C
NG_051072.1:g.142625T>C
NM_006154.4:c.1026+9T>C
More... 		01/09/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NEDD4
Accession:NM_006154
Location:INTRON

Gene Symbol:NEDD4
Accession:XM_011521624
Location:INTRON

Gene Symbol:NEDD4
Accession:NM_001284340
Location:INTRON

Gene Symbol:NEDD4
Accession:NM_001284339
Location:INTRON

Gene Symbol:NEDD4
Accession:XM_011521625
Location:INTRON

Gene Symbol:NEDD4
Accession:NM_198400
Location:INTRON

Gene Symbol:NEDD4
Accession:XM_011521626
Location:INTRON

Gene Symbol:NEDD4
Accession:NM_001329212
Location:INTRON

Gene Symbol:NEDD4
Accession:NM_001284338
Location:INTRON

Gene Symbol:NEDD4
Accession:NR_104302
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000898478 CLINVAR
dbSNP (RS) rs779086352 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene NEDD4 CLINVAR
OMIM 602278 CLINVAR