CLCN1 Chromosome 7
Chloride voltage-gated channel 1
Upload your DNA to see your personal genotypes for variants in CLCN1.
What This Gene Does
The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
Gene Info
Gene Group
CLC chloride channel and transporter family
Locus Type
gene with protein product
Location
7q34
Ensembl
ENSG00000188037
Associated Conditions (34)
Congenital myotonia
autosomal recessive form
autosomal dominant form
Batten-Turner congenital myopathy
Inborn genetic diseases
Malignant tumor of esophagus
Acute myeloid leukemia
CLCN1-related disorder
Dystonia
early-onset
and/or spastic paraplegia
Myotonia
Tip-toe gait
EMG: myotonic discharges
Ovarian serous cystadenocarcinoma
Abnormality of the musculature
6 conditions
Smith-Lemli-Opitz syndrome
Skeletal muscle channelopathy
Lumbar hyperlordosis
+14 more conditions
Key Variants
RS1023099235
Conflicting classifications of pathogenicity
Congenital myotonia, autosomal recessive form, autosomal dominant form
Health Risk
RS1027351084
Conflicting classifications of pathogenicity
Batten-Turner congenital myopathy, Congenital myotonia, autosomal recessive form
Health Risk
RS1064794643
Conflicting classifications of pathogenicity
Congenital myotonia, autosomal recessive form, autosomal dominant form
Health Risk
RS1064796557
Conflicting classifications of pathogenicity
Congenital myotonia, autosomal recessive form, autosomal dominant form
Health Risk
RS1085307989
Conflicting classifications of pathogenicity
Congenital myotonia, autosomal dominant form, autosomal recessive form
Health Risk
RS112282456
Conflicting classifications of pathogenicity
Congenital myotonia, autosomal dominant form, autosomal recessive form
Health Risk
RS1175929008
Conflicting classifications of pathogenicity
Congenital myotonia, autosomal recessive form, autosomal dominant form
Health Risk
RS117661165
Conflicting classifications of pathogenicity
Congenital myotonia, autosomal recessive form, autosomal dominant form
Health Risk
RS118066140
Conflicting classifications of pathogenicity
Batten-Turner congenital myopathy, Congenital myotonia, autosomal recessive form
Health Risk
RS1237574012
Conflicting classifications of pathogenicity
Congenital myotonia, autosomal recessive form, autosomal dominant form
Health Risk
RS1282349760
Conflicting classifications of pathogenicity
Congenital myotonia, autosomal recessive form, autosomal dominant form
Health Risk
RS1288398919
Conflicting classifications of pathogenicity
Congenital myotonia, autosomal recessive form, autosomal dominant form
Health Risk
All Variants (357)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS781587827 | Health Risk | Conflicting classifications of pathogenicity | Batten-Turner congenital myopathy, Congenital myotonia, autosomal dominant form |
| RS797045032 | Health Risk | Conflicting classifications of pathogenicity | Congenital myotonia, autosomal recessive form, autosomal dominant form |
| RS886062032 | Health Risk | Conflicting classifications of pathogenicity | Batten-Turner congenital myopathy, Congenital myotonia, autosomal recessive form |
| RS886062034 | Health Risk | Conflicting classifications of pathogenicity | Batten-Turner congenital myopathy, Congenital myotonia, autosomal recessive form |
| RS947251147 | Health Risk | Conflicting classifications of pathogenicity | Congenital myotonia, autosomal dominant form, autosomal recessive form |
| RS1027814542 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal dominant form, autosomal recessive form |
| RS1056856929 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal dominant form, autosomal recessive form |
| RS1192056840 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal recessive form, autosomal dominant form |
| RS1197125822 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal recessive form, autosomal dominant form |
| RS121912805 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal recessive form, autosomal dominant form |
| RS1224227320 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal dominant form, autosomal recessive form |
| RS1255229981 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal recessive form, autosomal dominant form |
| RS1266327660 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal recessive form, autosomal dominant form |
| RS139158852 | Health Risk | Likely pathogenic | Batten-Turner congenital myopathy, Batten-Turner congenital myopathy |
| RS1474520642 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal recessive form, autosomal dominant form |
| RS1474851853 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal dominant form, Congenital myotonia |
| RS1486868849 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal dominant form, autosomal recessive form |
| RS150885084 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal recessive form, autosomal dominant form |
| RS1554434857 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal dominant form, autosomal recessive form |
| RS1554438053 | Health Risk | Likely pathogenic | — |
| RS1554438441 | Health Risk | Likely pathogenic | Lumbar hyperlordosis, Hypoplasia of the maxilla, Skeletal muscle hypertrophy |
| RS1554438471 | Health Risk | Likely pathogenic | — |
| RS1563074191 | Health Risk | Likely pathogenic | — |
| RS1563087092 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal recessive form, autosomal dominant form |
| RS1563090141 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal recessive form, autosomal dominant form |
| RS1586507590 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal recessive form, autosomal dominant form |
| RS1802376231 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal dominant form, autosomal recessive form |
| RS1802429044 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal dominant form, autosomal recessive form |
| RS1802442027 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal dominant form, autosomal recessive form |
| RS1802699644 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal dominant form, autosomal recessive form |
| RS1802700924 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal recessive form, autosomal dominant form |
| RS1802702027 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal dominant form, autosomal recessive form |
| RS1802715644 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal dominant form, autosomal recessive form |
| RS1802760935 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal recessive form, autosomal dominant form |
| RS1803225186 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal recessive form, autosomal dominant form |
| RS1803359070 | Health Risk | Likely pathogenic | — |
| RS1803407825 | Health Risk | Likely pathogenic | Tip-toe gait, Tip-toe gait |
| RS201850090 | Health Risk | Likely pathogenic | — |
| RS2116383424 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal recessive form, autosomal dominant form |
| RS2116838394 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal dominant form, autosomal recessive form |
| RS2116864878 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal recessive form, autosomal dominant form |
| RS2485434733 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal recessive form, Congenital myotonia |
| RS2485434788 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal recessive form, Congenital myotonia |
| RS2485434813 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal recessive form, Congenital myotonia |
| RS2485435041 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal dominant form, Congenital myotonia |
| RS2485436810 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal recessive form, autosomal dominant form |
| RS2485444714 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal recessive form, autosomal dominant form |
| RS2487031771 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal recessive form, autosomal dominant form |
| RS2487033881 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal recessive form, Congenital myotonia |
| RS2487034267 | Health Risk | Likely pathogenic | Congenital myotonia, autosomal dominant form, autosomal recessive form |