RGD:28875433 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:28875433 -  Homo sapiens

RGD ID: 28875433
RS ID: rs1925809901
ClinVar ID: CV902695
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRPS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 106,893,870
GRCh38 X 107,650,640
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001204402.2:c.*608C>T
LRG_264t1:c.*608C>T
NC_000023.11:g.107650640C>T
NC_000023.10:g.106893870C>T
More... 		01/13/2018 3 prime utr variant uncertain significance ARTS SYNDROME AND PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY; Deafness, X-linked 1; DEAFNESS, X-LINKED 2, SENSORINEURAL CONGENITAL; DFNX1 Nonsyndromic Hearing Loss and Deafness; MENTAL RETARDATION, X-LINKED, SYNDROMIC 18; MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE; X-linked fatal ataxia with deafness and loss of vision
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PRPS1
Accession:NM_002764
Location:3UTRS;EXON

Gene Symbol:PRPS1
Accession:NM_001204402
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001165776 CLINVAR
  RCV001165777 CLINVAR
  RCV001165778 CLINVAR
dbSNP (RS) rs1925809901 CLINVAR
MedGen C0796028 CLINVAR
  C1844677 CLINVAR
  C1970827 CLINVAR
NCBI Gene PRPS1 CLINVAR
OMIM 300661 CLINVAR
  301835 CLINVAR
  304500 CLINVAR
  311850 CLINVAR