{{Rsnum
|rsid=80356706
|Chromosome=7
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=CLCN1
|position=143351793
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=CLCN1
}}{{omim
|id=118425
|rsnum=80356706
|variant=0014
}}{{ClinVar
|rsid=80356706
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=143048886
|CHROM=7
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050168000000040002110100
|GENEINFO=CLCN1:1180
|GENE_NAME=CLCN1
|GENE_ID=1180
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000007.13:g.143048886C>T
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK1355; 118425.0014
|CLNSIG=5
|CLNCUI=C0751360; C0027127
|CLNDBN=Congenital myotonia, autosomal recessive form; Myotonia congenita
|Disease=Congenital myotonia; Myotonia congenita
|CLNACC=RCV000019085.26; RCV000020108.1
|Tags=PM;PMC;SLO;VLD;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; GeneReviews:MedGen:SNOMED_CT
|CLNDSDBID=NBK1355:C0751360:255700:614:20305008; NBK1355:C0027127:57938005
}}{{PMID Auto
|PMID=11113225
|Title=A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene.
}}