A274G (p.Ala274Gly) variant of ATP1A1 (P05023)
A274G (p.Ala274Gly) in ATP1A1 (P05023) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypomagnesemia, seizures, and intellectual disability 2. The record also includes structural context.
A274G (p.Ala274Gly) variant details
- p.Ala274Gly
- rs2525834257
- ClinVar RCV004560512
- Likely pathogenic
- Hypomagnesemia, seizures, and intellectual disability 2
- Missense
- ClinVar: Likely pathogenic (Hypomagnesemia, seizures, and intellectual disability 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available