Q40L (p.Gln40Leu) variant of TERT (Telomerase reverse transcriptase)
Q40L (p.Gln40Leu) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis. The record also includes published literature and structural context.
Q40L (p.Gln40Leu) variant details
- p.Gln40Leu
- rs1751294652
- ClinGen CA359059212
- ClinVar RCV002552461
- Ensembl rs1751294652
- Uncertain significance
- Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis
- Missense
- ClinVar: Uncertain significance (Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmona)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)