| Geno
|
Mag
|
Summary
|
| (A;A)
|
4
|
susceptibility to malignant hyperthermia
|
| (A;G)
|
4
|
susceptibility to malignant hyperthermia
|
| (G;G)
|
0
|
common in complete genomics
|
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.[PMID 9199552
]
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.[PMID 23788249]
[PMID 9199552] 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.
[PMID 10590402] Genetics and pathogenesis of malignant hyperthermia.
[PMID 11260227] Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia.
]
