Q78* (p.Gln78Ter) variant of SOX10 (Transcription factor SOX-10)
Q78* (p.Gln78Ter) in SOX10 (Transcription factor SOX-10) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q78* (p.Gln78Ter) variant details
- p.Gln78Ter
- rs1555939491
- ClinGen CA411501391
- ClinVar RCV000627359
- ClinVar RCV001290166
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available