T360R (p.Thr360Arg) variant of ATP1A3 (P13637)
T360R (p.Thr360Arg) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Dystonia 12; Alternating hemiplegia of childhood 2. The record also includes published literature and structural context.
T360R (p.Thr360Arg) variant details
- p.Thr360Arg
- rs2514066639
- ClinGen CA406051236
- ClinVar RCV003223518
- ClinVar RCV003333250
- Pathogenic/Likely pathogenic
- Dystonia 12; Alternating hemiplegia of childhood 2
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Dystonia 12; Alternating hemiplegia of childhood 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)