rs80356687, CLCN1

N. diseases: 3
Disease: Generalized Myotonia of Thomsen ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Generalized Myotonia of Thomsen
CUI: C2936781
Disease: Generalized Myotonia of Thomsen
0.710 GeneticVariation BEFREE We engineered a ribozyme that targets the mRNA of a mutant canine skeletal muscle chloride channel (cClC-1) (mutation T268M in ClC-1 causing myotonia congenita) and replaces the mutant-containing 3' portion by trans-splicing the corresponding 4-kb wild-type sequence. 12488428 2002
Generalized Myotonia of Thomsen
CUI: C2936781
Disease: Generalized Myotonia of Thomsen
0.710 CausalMutation CLINVAR