K8N (p.Lys8Asn) variant of ATP1A3 (P13637)
K8N (p.Lys8Asn) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dystonia 12. The record also includes published literature and structural context.
K8N (p.Lys8Asn) variant details
- p.Lys8Asn
- rs2145984204
- ClinGen CA406057978
- ClinVar RCV003628372
- Uncertain significance
- Dystonia 12
- Missense
- ClinVar: Uncertain significance (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)