W164R (p.Trp164Arg) variant of CLCN1 (Chloride channel protein 1)
W164R (p.Trp164Arg) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Skeletal muscle channelopathy; Congenital myotonia, autosomal dominant form; Con. The record also includes published literature and structural context.
W164R (p.Trp164Arg) variant details
- p.Trp164Arg
- rs1802429044
- ClinGen CA369683630
- ClinVar RCV003781073
- ClinVar RCV006635271
- Likely pathogenic
- Skeletal muscle channelopathy; Congenital myotonia, autosomal dominant form; Con
- Missense
- ClinVar: Likely pathogenic (Skeletal muscle channelopathy; Congenital myotonia, autosomal do)
- EBI: Pathogenic (in MCAR)
- UniProt: Pathogenic (in MCAR)
- Structural context available
- Cited in: Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients. (PMID 22521272)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)