H17L (p.His17Leu) variant of TERT (Telomerase reverse transcriptase)
H17L (p.His17Leu) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Dyskeratosis congenita. The record also includes structural context.
H17L (p.His17Leu) variant details
- p.His17Leu
- cosmic curated COSV10942
- Ensembl rs2126692678
- Uncertain significance
- Dyskeratosis congenita
- Missense
- ClinVar: Uncertain significance (Dyskeratosis congenita)
- UniProt: Uncertain significance
- Structural context available