Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
CACNA1S
Calcium channel, voltage-dependent, L type, alpha 1S subunit




1q32
* Congenital myopathy with ophthalmoplegia related to CACNA1S - (3.45, 7.8, 8.5)
* Hypokalemic periodic paralysis - CACNL1A3 (3.45, 7.8, 8.5)
* Hypokalaemic periodic paralysis, type 1 - hypoKPP1 (3.45, 7.8, 8.5)
* Malignant hyperthermia susceptibility 5 - MHS5 (3.45, 7.8, 8.5)