{{Rsnum
|rsid=80356707
|Chromosome=7
|Orientation=plus
|geno1=(-;-)
|geno2=(-;G)
|geno3=(G;G)
|Gene=CLCN1
|position=143346624
|Gene_s=CLCN1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=80356707
|Reversed=0
|FwdREF=G
|FwdALT=
|REF=TG
|ALT=T
|RSPOS=143043714
|CHROM=7
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050168000000000002110200
|GENEINFO=CLCN1:1180
|GENE_NAME=CLCN1
|GENE_ID=1180
|WGT=0
|VC=DIV
|CLNALLE=1
|CLNHGVS=NC_000007.13:g.143043717delG
|CLNSRC=GeneReviews
|CLNORIGIN=0
|CLNSRCID=NBK1355
|CLNSIG=5
|CLNCUI=C0027127
|CLNDBN=Myotonia congenita
|Disease=Myotonia congenita
|CLNACC=RCV000020105.1
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:SNOMED_CT
|CLNDSDBID=NBK1355:C0027127:57938005
}}{{PMID Auto
|PMID=16629771
|Title=Novel mutations at carboxyl terminus of CIC-1 channel in myotonia congenita.
}}

{{PMID Auto
|PMID=17097617
|Title=Functional characterization of CLCN1 mutations in Taiwanese patients with myotonia congenita via heterologous expression.
}}