G266V (p.Gly266Val) variant of ATP1A3 (P13637)
G266V (p.Gly266Val) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Dystonia 12. The record also includes published literature and structural context.
G266V (p.Gly266Val) variant details
- p.Gly266Val
- rs2514075825
- ClinGen CA406053099
- ClinVar RCV003514910
- ClinVar RCV004775432
- Uncertain significance
- not provided; Dystonia 12
- Missense
- ClinVar: Uncertain significance (not provided; Dystonia 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)