R900M (p.Arg900Met) variant of CACNA1S (Q13698)
R900M (p.Arg900Met) in CACNA1S (Q13698) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hypokalemic periodic paralysis, type 1. The record also includes published literature and structural context.
R900M (p.Arg900Met) variant details
- p.Arg900Met
- rs2464520880
- ClinGen CA344102480
- ClinVar RCV003320006
- Pathogenic
- Hypokalemic periodic paralysis, type 1
- Missense
- ClinVar: Pathogenic (Hypokalemic periodic paralysis, type 1)
- EBI: Pathogenic (in HOKPP1)
- UniProt: Pathogenic (in HOKPP1)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Hypokalemic Periodic Paralysis. (PMID 20301512)