G51* (p.Gly51Ter) variant of KDM6A (Lysine-specific demethylase 6A)
G51* (p.Gly51Ter) in KDM6A (Lysine-specific demethylase 6A) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
G51* (p.Gly51Ter) variant details
- p.Gly51Ter
- rs886043476
- ClinGen CA10605565
- ClinVar RCV000338872
- Ensembl rs886043476
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available