R188* (p.Arg188Ter) variant of ATP1A3 (P13637)
R188* (p.Arg188Ter) in ATP1A3 (P13637) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
R188* (p.Arg188Ter) variant details
- p.Arg188Ter
- rs2075282510
- ClinGen CA406054375
- cosmic curated COSV10511
- ClinVar RCV001297560
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)