The TERT gene homepage

General information
Gene symbol TERT
Gene name telomerase reverse transcriptase
Chromosome 5
Chromosomal band p15.33
Imprinted Unknown
Genomic reference LRG_343
Transcript reference NM_001193376.1, NM_198253.2
Associated with diseases AML, CMM-9, DKCA-2, PFBMFT-1
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 48
Unique public DNA variants reported 12
Individuals with public variants 30
Hidden variants 120
Date created November 30, -0001
Date last updated September 28, 2016
Version TERT:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC 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))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00026960 5 transcript variant 2 NM_001193376.1 NP_001180305.1 48
00026961 5 transcript variant 1 NM_198253.2 NP_937983.2 48