Y63* (p.Tyr63Ter) variant of FBN1 (Fibrillin-1)
Y63* (p.Tyr63Ter) in FBN1 (Fibrillin-1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in ECTOL1. The record also includes published literature.
Y63* (p.Tyr63Ter) variant details
- p.Tyr63Ter
- rs1597633183
- ClinGen CA392448486
- ClinVar RCV000984035
- Ensembl rs1597633183
- Pathogenic
- in ECTOL1
- Stop Gained
- EBI: Pathogenic (in ECTOL1)
- UniProt: Pathogenic (in ECTOL1)
- Cited in: Recommendations for physical activity and recreational sports participation for young patients with genetic… (PMID 15184297)
- Cited in: Guidelines for the diagnosis and management of Marfan syndrome. (PMID 17188935)