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FLASH GENE
Symbol CACNA1S contributors: mct/npt - updated : 13-02-2010
HGNC name calcium channel, voltage-dependent, L type, alpha 1S subunit
HGNC id 1397
ASSOCIATED DISORDERS
corresponding disease(s) HOKPP1 , MHS5
Susceptibility to malignant hyperthermia
Variant & Polymorphism a single potentially pathogenic change in CACNA1S (p.Arg174Trp), associated to malignant hyperthermia (Carpenter 2009)
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS