D7G (p.Asp7Gly) variant of ATP1A3 (P13637)
D7G (p.Asp7Gly) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Dystonia 12. The record also includes structural context.
D7G (p.Asp7Gly) variant details
- p.Asp7Gly
- Ensembl rs2145984213
- Uncertain significance
- Dystonia 12
- Missense
- ClinVar: Uncertain significance (Dystonia 12)
- UniProt: Uncertain significance
- Structural context available