RGD:156013377 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 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
Advanced Search (OLGA)

Variant: RGD:156013377 -  Homo sapiens

RGD ID: 156013377
ClinVar ID: CV2071995
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STAT5B  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 40,369,499
GRCh38 17 42,217,481
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_012448.4:c.1170-17C>T
LRG_192:g.63926C>T
NG_007271.1:g.63926C>T
NC_000017.11:g.42217481G>A
More... 		12/11/2023 intron variant likely benign Growth hormone insensitivity due to postreceptor defect; GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 1, AUTOSOMAL RECESSIVE; Growth hormone insensitivity with immunodeficiency; Laron syndrome due to postreceptor defect; Laron syndrome with immunodeficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:STAT5B
Accession:NM_012448
Location:INTRON

Gene Symbol:STAT5B
Accession:XM_017024977
Location:INTRON

Gene Symbol:STAT5B
Accession:XM_024450897
Location:INTRON

Gene Symbol:STAT5B
Accession:XM_005257626
Location:INTRON

Gene Symbol:STAT5B
Accession:XM_024450898
Location:INTRON

Gene Symbol:STAT5B
Accession:XM_047436593
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002843998 CLINVAR
MedGen C5435698 CLINVAR
NCBI Gene STAT5B CLINVAR
OMIM 245590 CLINVAR
  604260 CLINVAR