Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
TERT p.Arg811Cys (p.R811C)
(
ENST00000310581.10,
ENST00000334602.10 )
TERT p.Arg811Cys (p.R811C) ( ENST00000310581.10, ENST00000334602.10 ) - Associated Disease
- Idiopathic Pulmonary Fibrosis Dyskeratosis congenita, autosomal dominant 2
- Source Database
- ClinVar
- Description
- NM_198253.3(TERT):c.2431C>T (p.Arg811Cys) AND multiple conditions
- ClinVar Allele ID
- 38855
- ClinVar RefSeq Alternation Syntax
- NM_198253.3:c.2431C>T
- ClinVar RefSeq Alternation Syntax
- NM_001193376.3:c.2431C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-07-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002513176
- ClinVar Disease
- Idiopathic Pulmonary Fibrosis
- ClinVar Disease
- Dyskeratosis congenita, autosomal dominant 2
- Observed Origin Sample
- germline
Drugs