Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
TERT c.1574-3777G>T
(
ENST00000310581.10,
ENST00000334602.10 )
TERT c.1574-3777G>T ( ENST00000310581.10, ENST00000334602.10 ) - Associated Disease
- Combined pulmonary fibrosis-emphysema syndrome
- Source Database
- ClinVar
- Description
- NM_198253.3(TERT):c.1574-3777G>T AND Combined pulmonary fibrosis-emphysema syndrome
- ClinVar Allele ID
- 362289
- ClinVar RefSeq Alternation Syntax
- NM_001193376.3:c.1574-3777G>T
- ClinVar RefSeq Alternation Syntax
- NM_198253.3:c.1574-3777G>T
- Clinical Significance Description
- association
- Clinical Significance Last Update
- 2021-05-04
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002472373
- ClinVar Disease
- Combined pulmonary fibrosis-emphysema syndrome
- Observed Origin Sample
- germline
Drugs