Y3* (p.Tyr3Ter) variant of RAD21 (O60216)
Y3* (p.Tyr3Ter) in RAD21 (O60216) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic.
Y3* (p.Tyr3Ter) variant details
- p.Tyr3Ter
- rs758626942
- ClinGen CA372012280
- ClinVar RCV001293756
- ExAC rs758626942
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic