{{Rsnum
|rsid=121912805
|Chromosome=7
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=CLCN1
|position=143330789
|Gene_s=CLCN1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=118425
|rsnum=121912805
|variant=0010
}}{{ClinVar
|rsid=121912805
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=143027882
|CHROM=7
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000000000002110100
|GENEINFO=CLCN1:1180
|GENE_NAME=CLCN1
|GENE_ID=1180
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000007.13:g.143027882G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=118425.0010
|CLNSIG=5
|CLNCUI=C0751360
|CLNDBN=Congenital myotonia, autosomal recessive form
|Disease=Congenital myotonia
|CLNACC=RCV000019093.22
|Tags=PM;S3D;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1355:C0751360:255700:614:20305008
}}