R30G (p.Arg30Gly) variant of TERT (Telomerase reverse transcriptase)
R30G (p.Arg30Gly) 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. The record also includes published literature and structural context.
R30G (p.Arg30Gly) variant details
- p.Arg30Gly
- rs2126692283
- ClinVar RCV004561365
- Ensembl rs2126692283
- Uncertain significance
- Dyskeratosis congenita
- Missense
- ClinVar: Uncertain significance (Dyskeratosis congenita)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)