M1I (p.Met1Ile) variant of RAD21 (O60216)
M1I (p.Met1Ile) in RAD21 (O60216) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cornelia de Lange syndrome 4. The record also includes published literature.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1586276006
- ClinGen CA372012317
- ClinVar RCV000995851
- Pathogenic
- Cornelia de Lange syndrome 4
- Missense
- ClinVar: Pathogenic (Cornelia de Lange syndrome 4)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)