Y308C (p.Tyr308Cys) variant of EED (Polycomb protein EED)
Y308C (p.Tyr308Cys) in EED (Polycomb protein EED) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cohen-Gibson syndrome. The record also includes published literature.
Y308C (p.Tyr308Cys) variant details
- p.Tyr308Cys
- rs2495876442
- ClinGen CA382005074
- NCI-TCGA Cosmic COSV5455
- ClinVar RCV003757717
- Pathogenic
- Cohen-Gibson syndrome
- Missense
- ClinVar: Pathogenic (Cohen-Gibson syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: EED-Related Overgrowth. (PMID 30973693)