C375R (p.Cys375Arg) variant of SCN4A (Nav1.4)
C375R (p.Cys375Arg) in SCN4A (Nav1.4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital myopathy 22A, classic. The record also includes published literature and structural context.
C375R (p.Cys375Arg) variant details
- p.Cys375Arg
- rs2509318035
- ClinGen CA400636460
- ClinVar RCV003227550
- UniProt VAR 088556
- Pathogenic
- Congenital myopathy 22A, classic
- Missense
- ClinVar: Pathogenic (Congenital myopathy 22A, classic)
- EBI: Pathogenic (in CMYO22A)
- UniProt: Pathogenic (in CMYO22A)
- Structural context available
- Cited in: Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel… (PMID 28262468)
- Cited in: Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. (PMID 26700687)