L90R (p.Leu90Arg) variant of KCNJ2 (P63252)
L90R (p.Leu90Arg) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Andersen Tawil syndrome. The record also includes published literature and structural context.
L90R (p.Leu90Arg) variant details
- p.Leu90Arg
- rs2509920970
- ClinGen CA400860233
- ClinVar RCV004515764
- Pathogenic
- Andersen Tawil syndrome
- Missense
- ClinVar: Pathogenic (Andersen Tawil syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)