L193* (p.Leu193Ter) variant of RAD21 (O60216)
L193* (p.Leu193Ter) in RAD21 (O60216) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic.
L193* (p.Leu193Ter) variant details
- p.Leu193Ter
- rs886041504
- ClinGen CA10603084
- ClinVar RCV000374189
- Ensembl rs886041504
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic