V56F (p.Val56Phe) variant of CLCN1 (Chloride channel protein 1)
V56F (p.Val56Phe) 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.
V56F (p.Val56Phe) variant details
- p.Val56Phe
- rs202120426
- ClinGen CA369677640
- ClinVar RCV003792202
- 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)