E137* (p.Glu137Ter) variant of PCDH19 (Protocadherin-19)
E137* (p.Glu137Ter) in PCDH19 (Protocadherin-19) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E137* (p.Glu137Ter) variant details
- p.Glu137Ter
- rs1555985689
- ClinGen CA414009827
- ClinVar RCV000497495
- ClinVar RCV001865562
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available