{{Rsnum
|rsid=80356700
|Chromosome=7
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=CLCN1
|position=143321841
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=CLCN1
}}{{omim
|id=118425
|rsnum=80356700
|variant=0002
}}{{ClinVar
|rsid=80356700
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=143018934
|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.143018934G>A
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1355; 118425.0002
|CLNSIG=5
|CLNCUI=C2936781; C0027127
|CLNDBN=Congenital myotonia, autosomal dominant form; Myotonia congenita
|Disease=Congenital myotonia; Myotonia congenita
|CLNACC=RCV000019084.26; RCV000020113.1
|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 Auto
|PMID=7981750
|Title=Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).
}}

{{PMID Auto
|PMID=9122265
|Title=A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel.
|OA=1
}}