Y68* (p.Tyr68Ter) variant of RELN (Reelin)
Y68* (p.Tyr68Ter) in RELN (Reelin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic.
Y68* (p.Tyr68Ter) variant details
- p.Tyr68Ter
- rs2484917661
- ClinGen CA368931254
- ClinVar RCV002464044
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic