C38* (p.Cys38Ter) variant of RELA (Transcription factor p65)
C38* (p.Cys38Ter) in RELA (Transcription factor p65) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic.
C38* (p.Cys38Ter) variant details
- p.Cys38Ter
- rs2135572911
- ClinGen CA2573147391
- ClinVar RCV001913491
- Ensembl rs2135572911
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic