CLCN1 - Gene browser

CLCN1

chloride voltage-gated channel 1

HCNC Approved Symbol: CLCN1 (HGNC:2019)
Genomic Coordinates: 7:143,316,111 - 143,352,083 (7q34)
Synonyms: CLC1, ClC-1
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

46Patients

In total, 46 patients were diagnosed with a variant in the CLCN1 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

046
Patient count

Myotonia: 23 (50.0%)
Patient Count: 23 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
23 (50.0%)
Emg: myotonic runs: 7 (15.2%)
Patient Count: 7 (15.2%)
% of total patients presenting each phenotype is shown in parentheses.
7 (15.2%)
Myotonia with warm-up phenomenon: 6 (13.0%)
Patient Count: 6 (13.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (13.0%)
Myopathy: 6 (13.0%)
Patient Count: 6 (13.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (13.0%)
Emg: myotonic discharges: 5 (10.9%)
Patient Count: 5 (10.9%)
% of total patients presenting each phenotype is shown in parentheses.
5 (10.9%)