RGD:405184743 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:405184743 -  Homo sapiens

RGD ID: 405184743
ClinVar ID: CV2996612
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDGFRA  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 55,140,812
GRCh38 4 54,274,645
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001347827.2:c.1653+20A>G
NM_001347829.2:c.1653+20A>G
NM_006206.6:c.1653+20A>G
NM_001347830.2:c.1692+20A>G
More... 		02/21/2023 intron variant likely benign Gastrointestinal stroma tumor; Gastrointestinal Stromal Sarcoma; Gastrointestinal stromal tumor, somatic
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:PDGFRA
Accession:NM_006206
Location:INTRON

Gene Symbol:PDGFRA
Accession:XM_005265743
Location:INTRON

Gene Symbol:PDGFRA
Accession:XM_006714041
Location:INTRON

Gene Symbol:PDGFRA
Accession:XM_017008281
Location:INTRON

Gene Symbol:PDGFRA
Accession:NM_001347828
Location:INTRON

Gene Symbol:PDGFRA
Accession:NM_001347827
Location:INTRON

Gene Symbol:PDGFRA
Accession:NM_001347829
Location:INTRON

Gene Symbol:PDGFRA
Accession:NM_001347830
Location:INTRON

Gene Symbol:PDGFRA
Accession:XM_047415767
Location:INTRON

Gene Symbol:PDGFRA
Accession:XM_047415766
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003640090 CLINVAR
MedGen C0238198 CLINVAR
NCBI Gene PDGFRA CLINVAR
OMIM 173490 CLINVAR
  606764 CLINVAR