R48G (p.Arg48Gly) variant of TERT (Telomerase reverse transcriptase)
R48G (p.Arg48Gly) 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. The record also includes published literature and structural context.
R48G (p.Arg48Gly) variant details
- p.Arg48Gly
- rs1554043151
- ClinGen CA359059082
- ClinVar RCV000660546
- Ensembl rs1554043151
- Uncertain significance
- Dyskeratosis congenita, autosomal dominant 2
- Missense
- ClinVar: Uncertain significance (Dyskeratosis congenita, autosomal dominant 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)