RGD:150502294 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:150502294 -  Homo sapiens

RGD ID: 150502294
RS ID: rs11114502
ClinVar ID: CV1254483
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC105369867  PTPRQ  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 80,935,300
GRCh38 12 80,541,521
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001145026.2:c.3155-34A>T
NG_034052.1:g.102176A>T
NC_000012.12:g.80541521A>T
NC_000012.11:g.80935300A>T
 07/10/2018 intron variant benign Deafness, autosomal dominant 73; Deafness, autosomal recessive 84; DEAFNESS, AUTOSOMAL RECESSIVE 84A; DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PTPRQ
Accession:NM_001145026
Location:INTRON

Gene Symbol:LOC105369867
Accession:XR_007063388
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001677185 CLINVAR
  RCV001796686 CLINVAR
  RCV001796687 CLINVAR
dbSNP (RS) rs11114502 CLINVAR
MedGen C3150654 CLINVAR
  C3661900 CLINVAR
  C4540024 CLINVAR
NCBI Gene PTPRQ CLINVAR
OMIM 603317 CLINVAR
  613391 CLINVAR
  617663 CLINVAR