Rs80356696

rs80356696, also known as c.1655A>G or p.Gln552Arg, is a mutation in the CLCN1 gene on chromosome 7.

Acting in an autosomal dominant manner, the rs80356696(G) allele is considered to cause Thomsen's myotonia congenita; see also OMIM 118425.0007

Note that 23andMe refers to this SNP as i5003260.

Myotonia levior is a chloride channel disorder.

A novel alteration of muscle chloride channel gating in myotonia levior.