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 |
| 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
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