LOVD TERT homepage

General information
Gene name telomerase reverse transcriptase
Gene symbol TERT
Chromosome Location 5p15.33
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the TERT database
Date of creation May 02, 2014
Last update August 11, 2014
Version TERT140811
Add sequence variant Submit a sequence variant
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Reference sequence file Genomic reference sequence for describing sequence variants
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 1
Total number of individuals with variant(s) 5
Total number of variants reported 5
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the TERT database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the TERT database, without patient data
Complete sequence variant listing Listing of all sequence variants in the TERT database
Variants with no known pathogenicity Listing of all TERT variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms

Links to other resources
HGNC 11730
Entrez Gene 7015
OMIM - Gene 187270
UniProtKB (SwissProt/TrEMBL) O14746