R37P (p.Arg37Pro) variant of TERT (Telomerase reverse transcriptase)
R37P (p.Arg37Pro) 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.
R37P (p.Arg37Pro) variant details
- p.Arg37Pro
- rs1239502548
- ClinGen CA359059292
- ClinVar RCV003815311
- gnomAD rs1239502548
- 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)