rs2487015044
This variant is located in the CLCN1 gene.
▶ClinVar annotation
Congenital myotonia, autosomal dominant form;Congenital myotonia, autosomal recessive form
View on ClinVar →About CLCN1
The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
View all CLCN1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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