Y670C (p.Tyr670Cys) variant of NOTCH1 (P46531)
Y670C (p.Tyr670Cys) in NOTCH1 (P46531) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Adams-Oliver syndrome 5. The record also includes structural context.
Y670C (p.Tyr670Cys) variant details
- p.Tyr670Cys
- Ensembl rs2133362325
- Likely pathogenic
- Adams-Oliver syndrome 5
- Missense
- ClinVar: Likely pathogenic (Adams-Oliver syndrome 5)
- UniProt: Likely pathogenic
- Structural context available