Y83* (p.Tyr83Ter) variant of SOX10 (Transcription factor SOX-10)
Y83* (p.Tyr83Ter) 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 population frequency data, published literature, and structural context.
Y83* (p.Tyr83Ter) variant details
- p.Tyr83Ter
- rs73415876
- ClinGen CA118750
- ClinVar RCV000007818
- 1000Genomes rs73415876
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: SOX10 mutations in patients with Waardenburg-Hirschsprung disease. (PMID 9462749)