T737I (p.Thr737Ile) variant of KDM6A (Lysine-specific demethylase 6A)
T737I (p.Thr737Ile) 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.
T737I (p.Thr737Ile) variant details
- p.Thr737Ile
- Ensembl rs2148043192
- Pathogenic
- Tremor, hereditary essential, 6
- Missense
- ClinVar: Pathogenic (Tremor, hereditary essential, 6)
- UniProt: Pathogenic
- Structural context available