rs12139527

This variant is located in the CACNA1S gene.

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ClinVar annotation

Benign★★★☆
10 submitters3 publications

not specified; Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5;Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Congenital myopathy 18; Thyrotoxic periodic paralysis, susceptibility to, 1; not provided

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About CACNA1S

This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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