M171I (p.Met171Ile) variant of RAD21 (O60216)
M171I (p.Met171Ile) in RAD21 (O60216) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cornelia de Lange syndrome 4. The record also includes published literature.
M171I (p.Met171Ile) variant details
- p.Met171Ile
- rs2537297880
- ClinGen CA372006917
- ClinVar RCV003533968
- Uncertain significance
- Cornelia de Lange syndrome 4
- Missense
- ClinVar: Uncertain significance (Cornelia de Lange syndrome 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)