L55Q (p.Leu55Gln) variant of TERT (Telomerase reverse transcriptase)
L55Q (p.Leu55Gln) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1. The record also includes published literature and structural context.
L55Q (p.Leu55Gln) variant details
- p.Leu55Gln
- rs387907247
- ClinGen CA129979
- ClinVar RCV000030626
- ClinVar RCV000032368
- Pathogenic
- Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
- Missense
- ClinVar: Pathogenic (Pulmonary fibrosis and/or bone marrow failure, Telomere-related,)
- EBI: Pathogenic (in PFBMFT1)
- UniProt: Pathogenic (in PFBMFT1)
- Structural context available
- Cited in: Telomerase mutations in families with idiopathic pulmonary fibrosis. (PMID 17392301)
- Cited in: Pulmonary Fibrosis Predisposition Overview. (PMID 20301408)