Y120C (p.Tyr120Cys) variant of MECP2 (Methyl-CpG-binding protein 2)
Y120C (p.Tyr120Cys) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The record also includes structural context.
Y120C (p.Tyr120Cys) variant details
- p.Tyr120Cys
- rs2522106547
- NCI-TCGA Cosmic COSV5765
- cosmic curated COSV57657
- ClinGen CA415176540
- Pathogenic
- not provided
- Missense
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in RTT)
- UniProt: Pathogenic (in RTT)
- Structural context available