RGD:13621825 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:13621825 -  Homo sapiens

RGD ID: 13621825
RS ID: rs373488315
ClinVar ID: CV520676
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TERT  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 1,271,324
GRCh38 5 1,271,209
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_343t1:c.2383-5C>T
LRG_343:g.28839C>T
NG_009265.1:g.28839C>T
NC_000005.10:g.1271209G>A
More... 		08/18/2020 intron variant likely benign Idiopathic fibrosing alveolitis, chronic form; Idiopathic Pulmonary Fibrosis
Disease Annotations     Click to see Annotation Detail View

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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002531929 CLINVAR
dbSNP (RS) rs373488315 CLINVAR
MedGen C3151443 CLINVAR
NCBI Gene TERT CLINVAR
OMIM 187270 CLINVAR
  613989 CLINVAR
SNOMED CT 700250006 CLINVAR