H65D (p.His65Asp) variant of CLCN1 (Chloride channel protein 1)
H65D (p.His65Asp) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal rec. The record also includes published literature and structural context.
H65D (p.His65Asp) variant details
- p.His65Asp
- rs2487025762
- ClinGen CA369678962
- ClinVar RCV003801775
- Uncertain significance
- Congenital myotonia, autosomal dominant form; Congenital myotonia, autosomal rec
- Missense
- ClinVar: Uncertain significance (Congenital myotonia, autosomal dominant form; Congenital myotoni)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)