Annotation Detail
Information
- Associated Genes
- TERT LOC110806263
- Associated Variants
-
TERT c.-245T>C
TERT c.-245T>C - Associated Disease
- Dyskeratosis congenita, autosomal dominant 2 Idiopathic Pulmonary Fibrosis
- Source Database
- ClinVar
- Description
- NM_198253.2(TERT):c.-245T>C AND multiple conditions
- ClinVar Allele ID
- 520856
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-19
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002530516
- ClinVar Disease
- Idiopathic Pulmonary Fibrosis
- ClinVar Disease
- Dyskeratosis congenita, autosomal dominant 2
- Observed Origin Sample
- germline
Drugs