E210* (p.Glu210Ter) variant of RAD21 (O60216)
E210* (p.Glu210Ter) in RAD21 (O60216) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic.
E210* (p.Glu210Ter) variant details
- p.Glu210Ter
- rs2130469189
- ClinGen CA372006224
- ClinVar RCV001420218
- Ensembl rs2130469189
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic