Rs1800559

rs1800559, also known as Arg1086His or R1086H, is a SNP in the CACNA1S gene on chromosome 1.

The rs1800559(A) allele is reported to be associated with malignant hyperthermia, type 5.

This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.

Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle.

Genetics and pathogenesis of malignant hyperthermia.

Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia.