RGD:152046236 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:152046236 -  Homo sapiens

RGD ID: 152046236
RS ID: rs779251252
ClinVar ID: CV1526952
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIK3R1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 67,590,519
GRCh38 5 68,294,691
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_453t1:c.1568+13C>G
NM_181523.3:c.1568+13C>G
NM_001242466.2:c.479+13C>G
NM_181524.2:c.668+13C>G
More... 		07/22/2021 intron variant likely benign Agammaglobulinemia 7, autosomal recessive; AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO PIK3R1 DEFECT; Immunodeficiency 36; IMMUNODEFICIENCY 36 WITH LYMPHOPROLIFERATION; LIPODYSTROPHY, PARTIAL, WITH RIEGER ANOMALY AND SHORT STATURE; SHORT STATURE, HYPEREXTENSIBILITY, HERNIA, OCULAR DEPRESSION, RIEGER ANOMALY, AND TEETHING DELAY; Stature, Hyperextensibility of joints or Hernia (inguinal), Ocular depression, Rieger anomaly and Teething delay
Disease Annotations     Click to see Annotation Detail View
SHORT syndrome  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:PIK3R1
Accession:NM_181524
Location:INTRON

Gene Symbol:PIK3R1
Accession:NM_001242466
Location:INTRON

Gene Symbol:PIK3R1
Accession:XM_047417315
Location:INTRON

Gene Symbol:PIK3R1
Accession:XM_005248542
Location:INTRON

Gene Symbol:PIK3R1
Accession:XM_047417316
Location:INTRON

Gene Symbol:PIK3R1
Accession:NM_181504
Location:INTRON

Gene Symbol:PIK3R1
Accession:NM_181523
Location:INTRON

Gene Symbol:PIK3R1
Accession:XM_047417317
Location:INTRON

Gene Symbol:PIK3R1
Accession:XM_017009585
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002166303 CLINVAR
dbSNP (RS) rs779251252 CLINVAR
MedGen C0878684 CLINVAR
NCBI Gene PIK3R1 CLINVAR
OMIM 171833 CLINVAR
  269880 CLINVAR
  615214 CLINVAR
  616005 CLINVAR