Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
TERT p.Gly682Asp (p.G682D)
(
ENST00000310581.10,
ENST00000334602.10 )
TERT p.Gly682Asp (p.G682D) ( ENST00000310581.10, ENST00000334602.10 ) - Associated Disease
- Acquired aplastic anemia
- Source Database
- DisGeNET
- Description
- Novel heterozygous, non-synonymous mutations in TERT (T726M and G682D) were found in two patients with AA, neither of whom had clinical characteristics suggesting constitutional AA.
- Pubmed
- 16627250
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2006
Drugs