G42C (p.Gly42Cys) variant of MEN1 (Menin)
G42C (p.Gly42Cys) in MEN1 (Menin) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in MEN1. The record also includes structural context.
G42C (p.Gly42Cys) variant details
- p.Gly42Cys
- Ensembl rs1942013583
- Likely pathogenic
- in MEN1
- Missense
- EBI: Likely pathogenic (in MEN1)
- UniProt: Likely pathogenic (in MEN1)
- Structural context available