{{Rsnum
|rsid=80356694
|Chromosome=7
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=CLCN1
|position=143339290
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=CLCN1
}}{{omim
|id=118425
|rsnum=80356694
|variant=0006
}}{{ClinVar
|rsid=80356694
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=143036383
|CHROM=7
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050368000000000002110100
|GENEINFO=CLCN1:1180
|GENE_NAME=CLCN1
|GENE_ID=1180
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000007.13:g.143036383C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK1355; 118425.0006
|CLNSIG=5
|CLNCUI=C2936781; C0027127
|CLNDBN=Congenital myotonia, autosomal dominant form; Myotonia congenita
|Disease=Congenital myotonia; Myotonia congenita
|CLNACC=RCV000019089.22; RCV000020101.1
|Tags=PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; GeneReviews:MedGen:SNOMED_CT
|CLNDSDBID=NBK1355:C2936781:160800:614:57938005; NBK1355:C0027127:57938005
}}{{PMID|8112288|OA=1
}} Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen).

{{PMID|8845168}} Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel.

{{PMID|12661046}} Decrement of compound muscle action potential is related to mutation type in myotonia congenita.