TERT gene homepage

General information
Gene symbol TERT
Gene name telomerase reverse transcriptase
Chromosome 5
Chromosomal band p15.33
Imprinted Unknown
Genomic reference NG_009265.1
Transcript reference NM_198253.2
Exon/intron information NM_198253.2 exon/intron table
Associated with diseases AML, CMM-9, DKCA-2, PFBMFT-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 81
Unique public DNA variants reported 72
Individuals with public variants 84
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland. As a start data were copied from the TERT gene Telomerase Database.
Date created September 13, 2012
Date last updated June 19, 2017
Version TERT:170619

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_198253.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/TERT
External URL The TERt Telomerase Database
HGNC 11730
OMIM - Gene 187270
OMIM - Diseases AML (leukemia, myeloid, acute (AML))
CMM-9 (melanoma, cutaneous, malignant, susceptibility to, type 9 (CMM-9))
DKCA-2 (DCKB-4)
PFBMFT-1 (fibrosis, pulmonary, and/or bone marrow failure, telomere-related, type 1 (PFBMFT-1))
HGMD TERT
GeneCards TERT


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024211 5 transcript variant 1 NM_198253.2 NP_937983.2 81


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