RGD:28886075 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:28886075 -  Homo sapiens

RGD ID: 28886075
RS ID: rs529711304
ClinVar ID: CV874372
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IGF1R  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 99,501,358
GRCh38 15 98,958,129
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009492.1:g.313598C>T
NC_000015.10:g.98958129C>T
NM_001291858.2:c.*687C>T
NC_000015.9:g.99501358C>T
More... 		01/12/2018 3 prime utr variant likely benign IGF-1 resistance; IGF-I RESISTANCE; Insulin-like growth factor 1 resistance to; Somatomedin end-organ insensitivity to; Somatomedin-c resistance to
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IGF1R
Accession:XM_047432442
Location:3UTRS;EXON

Gene Symbol:IGF1R
Accession:XM_011521517
Location:3UTRS;EXON

Gene Symbol:IGF1R
Accession:XM_047432444
Location:3UTRS;EXON

Gene Symbol:IGF1R
Accession:XM_017022137
Location:3UTRS;EXON

Gene Symbol:IGF1R
Accession:XM_047432445
Location:3UTRS;EXON

Gene Symbol:IGF1R
Accession:NM_000875
Location:3UTRS;EXON

Gene Symbol:IGF1R
Accession:NM_001291858
Location:3UTRS;EXON

Gene Symbol:IGF1R
Accession:XM_047432443
Location:3UTRS;EXON

Gene Symbol:IGF1R
Accession:XM_011521516
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001119235 CLINVAR
dbSNP (RS) rs529711304 CLINVAR
MedGen C1849157 CLINVAR
NCBI Gene IGF1R CLINVAR
OMIM 147370 CLINVAR
  270450 CLINVAR