{{Rsnum
|rsid=55960271
|Gene=CLCN1
|Chromosome=7
|position=143351678
|Orientation=plus
|GMAF=0.003214
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=CLCN1
}}{{omim
|id=118425
|rsnum=55960271
|variant=0015
}}

{{ClinVar
|rsid=55960271
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=143048771
|CHROM=7
|GMAF=0.0032
|dbSNPBuildID=129
|SSR=0
|SAO=1
|VP=0x050168000000040016110100
|GENEINFO=CLCN1:1180
|GENE_NAME=CLCN1
|GENE_ID=1180
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000007.13:g.143048771C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK1355; 118425.0015
|CLNSIG=5
|CLNCUI=C0751360; C2936781; C0027127
|CLNDBN=Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form; Myotonia congenita
|Disease=Congenital myotonia; Congenital myotonia; Myotonia congenita
|CLNACC=RCV000019098.26; RCV000019099.26; RCV000020107.1
|Tags=PM;PMC;SLO;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9968; 0.003214
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; GeneReviews:MedGen:SNOMED_CT
|CLNDSDBID=NBK1355:C0751360:255700:614:20305008; NBK1355:C2936781:160800:614:57938005; NBK1355:C0027127:57938005
|COMMON=1
}}

{{PMID Auto
|PMID=8533761
|Title=Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.
|OA=1
}}

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

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}