Annotation Detail
Information
- Associated Genes
- TERT
- Associated Variants
-
TERT p.Pro923Leu (p.P923L)
(
ENST00000310581.10,
ENST00000334602.10 )
TERT p.Pro923Leu (p.P923L) ( 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.2768C>T (p.Pro923Leu) AND Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
- ClinVar Allele ID
- 45608
- ClinVar RefSeq Alternation Syntax
- NM_198253.3:c.2768C>T
- ClinVar RefSeq Alternation Syntax
- NM_001193376.3:c.2654+1985C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2012-04-19
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000030631
- ClinVar Disease
- Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
- Observed Origin Sample
- germline
- Pubmed
- 22512499
Drugs