Y102* (p.Tyr102Ter) variant of EDNRB (Endothelin receptor type B)
Y102* (p.Tyr102Ter) 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.
Y102* (p.Tyr102Ter) variant details
- p.Tyr102Ter
- rs1064797178
- ClinGen CA388452617
- ClinVar RCV000657773
- gnomAD rs1064797178
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available