Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
TERT p.Ala202Thr (p.A202T)
(
ENST00000310581.10,
ENST00000334602.10 )
TERT p.Ala202Thr (p.A202T) ( ENST00000310581.10, ENST00000334602.10 ) - Associated Disease
- Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
- Source Database
- ClinVar
- Description
- NM_198253.3(TERT):c.604G>A (p.Ala202Thr) AND Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
- ClinVar Allele ID
- 27768
- ClinVar RefSeq Alternation Syntax
- NM_198253.3:c.604G>A
- ClinVar RefSeq Alternation Syntax
- NR_149163.3:n.683G>A
- ClinVar RefSeq Alternation Syntax
- NR_149162.3:n.683G>A
- ClinVar RefSeq Alternation Syntax
- NM_001193376.3:c.604G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-01-25
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013566
- ClinVar Disease
- Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
- Observed Origin Sample
- germline
- Pubmed
- 15814878
Drugs