Q113* (p.Gln113Ter) variant of SATB2 (DNA-binding protein SATB2)
Q113* (p.Gln113Ter) in SATB2 (DNA-binding protein SATB2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q113* (p.Gln113Ter) variant details
- p.Gln113Ter
- rs1559052053
- ClinGen CA350386630
- ClinVar RCV000760901
- Ensembl rs1559052053
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available