T703I (p.Thr703Ile) variant of KDM6A (Lysine-specific demethylase 6A)
T703I (p.Thr703Ile) in KDM6A (Lysine-specific demethylase 6A) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Tremor, hereditary essential, 6. The record also includes structural context.
T703I (p.Thr703Ile) variant details
- p.Thr703Ile
- cosmic curated COSV65048
- Ensembl rs2148039614
- Pathogenic
- Tremor, hereditary essential, 6
- Missense
- ClinVar: Pathogenic (Tremor, hereditary essential, 6)
- UniProt: Pathogenic
- Structural context available