Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
TERT p.His412Tyr (p.H412Y)
(
ENST00000310581.10,
ENST00000334602.10 )
TERT p.His412Tyr (p.H412Y) ( ENST00000310581.10, ENST00000334602.10 ) - Associated Disease
- Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
- Source Database
- DisGeNET
- Description
- Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.
- Pubmed
- 15814878
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.24
- Year of publication
- 2005
Drugs