L841F (p.Leu841Phe) variant of TERT (Telomerase reverse transcriptase)
L841F (p.Leu841Phe) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1. The record also includes published literature and structural context.
L841F (p.Leu841Phe) variant details
- p.Leu841Phe
- rs2478180846
- ClinGen CA359074724
- ClinVar RCV002509800
- ClinVar RCV005863674
- Likely pathogenic
- Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
- Missense
- ClinVar: Likely pathogenic (Pulmonary fibrosis and/or bone marrow failure, Telomere-related,)
- EBI: Pathogenic (in PFBMFT1)
- UniProt: Pathogenic (in PFBMFT1)
- Structural context available
- Cited in: Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase. (PMID 21436073)
- Cited in: Pulmonary Fibrosis Predisposition Overview. (PMID 20301408)