Q160H (p.Gln160His) variant of CLCN1 (Chloride channel protein 1)
Q160H (p.Gln160His) 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 dominant form; Congenital myotonia, autosomal rec. The record also includes population frequency data, published literature, and structural context.
Q160H (p.Gln160His) variant details
- p.Gln160His
- rs771532474
- ClinGen CA4536967
- ClinVar RCV000800510
- UniProt VAR 075594
- Likely pathogenic
- Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal rec
- Missense
- ClinVar: Likely pathogenic (Congenital myotonia, autosomal dominant form; Congenital myotoni)
- EBI: Pathogenic (in MCAR)
- UniProt: Pathogenic (in MCAR)
- Population evidence available
- Structural context available
- Cited in: Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal… (PMID 26502825)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)