I228N (p.Ile228Asn) variant of RAD21 (O60216)
I228N (p.Ile228Asn) in RAD21 (O60216) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature.
I228N (p.Ile228Asn) variant details
- p.Ile228Asn
- rs2537297690
- ClinGen CA2697550112
- ClinVar RCV003531583
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)