S65* (p.Ser65Ter) variant of EDNRB (Endothelin receptor type B)
S65* (p.Ser65Ter) in EDNRB (Endothelin receptor type B) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
S65* (p.Ser65Ter) variant details
- p.Ser65Ter
- rs2501609661
- ClinGen CA388452849
- ClinVar RCV003692799
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available