G2R (p.Gly2Arg) variant of KCNJ2 (P63252)
G2R (p.Gly2Arg) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Andersen Tawil syndrome; Short QT syndrome type 3. The record also includes published literature and structural context.
G2R (p.Gly2Arg) variant details
- p.Gly2Arg
- rs2509920681
- ClinGen CA400859469
- ClinVar RCV003781719
- Uncertain significance
- Andersen Tawil syndrome; Short QT syndrome type 3
- Missense
- ClinVar: Uncertain significance (Andersen Tawil syndrome; Short QT syndrome type 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)