Y83* (p.Tyr83Ter) variant of EDN1 (Endothelin-1)
Y83* (p.Tyr83Ter) in EDN1 (Endothelin-1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Y83* (p.Tyr83Ter) variant details
- p.Tyr83Ter
- rs587777234
- ClinGen CA150782
- ClinVar RCV000106315
- Ensembl rs587777234
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. (PMID 23315542)
- Cited in: Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. (PMID 24268655)