Y20* (p.Tyr20Ter) variant of FBN1 (Fibrillin-1)
Y20* (p.Tyr20Ter) in FBN1 (Fibrillin-1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in MFS.
Y20* (p.Tyr20Ter) variant details
- p.Tyr20Ter
- rs1057524735
- ClinGen CA16607819
- ClinVar RCV000420981
- Ensembl rs1057524735
- Likely pathogenic
- in MFS
- Stop Gained
- EBI: Likely pathogenic (in MFS)
- UniProt: Likely pathogenic (in MFS)