A12T (p.Ala12Thr) variant of KDM6A (Lysine-specific demethylase 6A)
A12T (p.Ala12Thr) in KDM6A (Lysine-specific demethylase 6A) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Kabuki syndrome 2. The record also includes structural context.
A12T (p.Ala12Thr) variant details
- p.Ala12Thr
- Ensembl rs2146441261
- Uncertain significance
- Kabuki syndrome 2
- Missense
- ClinVar: Uncertain significance (Kabuki syndrome 2)
- UniProt: Uncertain significance
- Structural context available