Y75* (p.Tyr75Ter) variant of SATB2 (DNA-binding protein SATB2)
Y75* (p.Tyr75Ter) 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 published literature and structural context.
Y75* (p.Tyr75Ter) variant details
- p.Tyr75Ter
- rs1357010510
- ClinGen CA350386876
- ClinVar RCV000995632
- gnomAD rs1357010510
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SATB2-Associated Syndrome. (PMID 29023086)