D29* (p.Asp29Ter) variant of PCDH15 (Protocadherin-15)
D29* (p.Asp29Ter) in PCDH15 (Protocadherin-15) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic.
D29* (p.Asp29Ter) variant details
- p.Asp29Ter
- rs2135421507
- ClinGen CA2499220286
- ClinVar RCV001389893
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic