RGD:11583415 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:11583415 -  Homo sapiens

RGD ID: 11583415
RS ID: rs573817924
ClinVar ID: CV295271
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC110806263  TERT  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 1,294,879
GRCh38 5 1,294,764
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_343t1:c.219+7C>T
LRG_343:g.5284C>T
NG_009265.1:g.5284C>T
NC_000005.10:g.1294764G>A
More... 		07/30/2022 intron variant likely benign|uncertain significance adult 1-9 / 1 000 000|1-9 / 100 000 AllHighlyPenetrant; Cancer predisposition; Hereditary Cancer Syndrome; Hereditary cancer-predisposing syndrome; Hereditary neoplastic syndrome; Idiopathic fibrosing alveolitis, chronic form; Idiopathic Pulmonary Fibrosis; Neoplastic Syndromes, Hereditary; none provided; PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 1; Tumor predisposition
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:TERT
Accession:NM_198253
Location:INTRON

Gene Symbol:TERT
Accession:NM_001193376
Location:INTRON

Gene Symbol:TERT
Accession:NR_149162
Location:INTRON;NON-CODING

Gene Symbol:TERT
Accession:NR_149163
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:19489057   PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000266345 CLINVAR
  RCV000324023 CLINVAR
  RCV000357781 CLINVAR
  RCV000613962 CLINVAR
  RCV001528455 CLINVAR
  RCV002418210 CLINVAR
  RCV002520305 CLINVAR
  RCV003970015 CLINVAR
dbSNP (RS) rs573817924 CLINVAR
MedGen C0002874 CLINVAR
  C0265965 CLINVAR
  C3151443 CLINVAR
  C3553617 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene 110806263 CLINVAR
  TERT CLINVAR
OMIM 187270 CLINVAR
  609135 CLINVAR
  613989 CLINVAR
  614742 CLINVAR
SNOMED CT 306058006 CLINVAR
  700250006 CLINVAR
  74911008 CLINVAR