G188A (p.Gly188Ala) variant of CLCN1 (Chloride channel protein 1)
G188A (p.Gly188Ala) 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 Congenital myotonia, autosomal recessive form; not provided. The record also includes published literature and structural context.
G188A (p.Gly188Ala) variant details
- p.Gly188Ala
- rs1554434857
- ClinGen CA369684214
- ClinVar RCV000711235
- ClinVar RCV006635503
- Likely pathogenic
- Congenital myotonia, autosomal recessive form; not provided
- Missense
- ClinVar: Likely pathogenic (Congenital myotonia, autosomal recessive form; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Myotonia Congenita. (PMID 20301529)