RGD:126737274 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:126737274 -  Homo sapiens

RGD ID: 126737274
RS ID: rs1291159527
ClinVar ID: CV1021087
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STAT2  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 56,739,996
GRCh38 12 56,346,212
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1329t1:c.2045-9T>G
NM_001385115.1:c.2003-9T>G
NM_001385110.1:c.2012-9T>G
NM_001385113.1:c.2045-9T>G
More... 		11/03/2018 intron variant uncertain significance Immunodeficiency 44
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:STAT2
Accession:XM_047429472
Location:INTRON

Gene Symbol:STAT2
Accession:XM_047429469
Location:INTRON

Gene Symbol:STAT2
Accession:NM_198332
Location:INTRON

Gene Symbol:STAT2
Accession:NM_001385115
Location:INTRON

Gene Symbol:STAT2
Accession:XM_047429468
Location:INTRON

Gene Symbol:STAT2
Accession:XM_047429470
Location:INTRON

Gene Symbol:STAT2
Accession:NM_001385111
Location:INTRON

Gene Symbol:STAT2
Accession:XM_047429471
Location:INTRON

Gene Symbol:STAT2
Accession:XM_011538699
Location:INTRON

Gene Symbol:STAT2
Accession:NM_001385113
Location:INTRON

Gene Symbol:STAT2
Accession:NM_001385110
Location:INTRON

Gene Symbol:STAT2
Accession:NM_001385114
Location:INTRON

Gene Symbol:STAT2
Accession:NM_005419
Location:INTRON

Gene Symbol:STAT2
Accession:XM_011538697
Location:INTRON

Gene Symbol:STAT2
Accession:XM_011538698
Location:INTRON

Gene Symbol:STAT2
Accession:XR_245953
Location:INTRON;NON-CODING

Gene Symbol:STAT2
Accession:XR_007063122
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001335269 CLINVAR
dbSNP (RS) rs1291159527 CLINVAR
MedGen C4225260 CLINVAR
NCBI Gene STAT2 CLINVAR
OMIM 600556 CLINVAR
  616636 CLINVAR