G110V (p.Gly110Val) variant of TERT (Telomerase reverse transcriptase)
G110V (p.Gly110Val) 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 Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis. The record also includes published literature and structural context.
G110V (p.Gly110Val) variant details
- p.Gly110Val
- rs1751262771
- ClinGen CA359058281
- ClinVar RCV003798846
- Ensembl rs1751262771
- Likely pathogenic
- Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis
- Missense
- ClinVar: Likely pathogenic (Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmona)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)