TERT homepage - CCHMC Molecular Genetics Laboratory Mutation Database - Leiden Open Variation Database

CCHMC Molecular Genetics Laboratory Mutation Database

telomerase reverse transcriptase (TERT)

LOVD v.2.0 Build 36 [ Current LOVD status ]
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Curator: Ammar Husami

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
First time submitters	Register here
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