CACNA1S Chromosome 1
Calcium voltage-gated channel subunit alpha1 S
Upload your DNA to see your personal genotypes for variants in CACNA1S.
What This Gene Does
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]
Gene Info
Gene Group
Calcium voltage-gated channel alpha1 subunits
Locus Type
gene with protein product
Location
1q32.1
Ensembl
ENSG00000081248
Associated Conditions (25)
Malignant hyperthermia
susceptibility to
5
sevoflurane response - Toxicity
succinylcholine response - Toxicity
halothane response - Toxicity
methoxyflurane response - Toxicity
enflurane response - Toxicity
isoflurane response - Toxicity
Hypokalemic periodic paralysis
type 1
desflurane response - Toxicity
Thyrotoxic periodic paralysis
1
Congenital myopathy 18
Inborn genetic diseases
Malignant hyperthermia of anesthesia
Muscular atrophy
skeletal contractures
Congenital nuclear cataract
+5 more conditions
Key Variants
RS1800559
drug response
Malignant hyperthermia, susceptibility to, 5
Drug Response
RS772226819
drug response
Hypokalemic periodic paralysis, type 1, Malignant hyperthermia
Drug Response
RS112236248
Conflicting classifications of pathogenicity
Hypokalemic periodic paralysis, type 1, Malignant hyperthermia
Health Risk
RS113812219
Conflicting classifications of pathogenicity
Malignant hyperthermia, susceptibility to, 5
Health Risk
RS1157720606
Conflicting classifications of pathogenicity
Muscular atrophy, skeletal contractures, Congenital myopathy 18
Health Risk
RS1162767709
Conflicting classifications of pathogenicity
Malignant hyperthermia, susceptibility to, 5
Health Risk
RS116347156
Conflicting classifications of pathogenicity
Malignant hyperthermia of anesthesia, Hypokalemic periodic paralysis, type 1
Health Risk
RS1170882286
Conflicting classifications of pathogenicity
Hypokalemic periodic paralysis, type 1, Malignant hyperthermia
Health Risk
RS1174225838
Conflicting classifications of pathogenicity
Hypokalemic periodic paralysis, type 1, Malignant hyperthermia
Health Risk
RS1181877748
Conflicting classifications of pathogenicity
Hypokalemic periodic paralysis, type 1, Malignant hyperthermia
Health Risk
RS1189622818
Conflicting classifications of pathogenicity
Hypokalemic periodic paralysis, type 1, Malignant hyperthermia
Health Risk
RS1213421499
Conflicting classifications of pathogenicity
Malignant hyperthermia, susceptibility to, 5
Health Risk
All Variants (450)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS780724976 | Health Risk | Conflicting classifications of pathogenicity | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia |
| RS780785403 | Health Risk | Conflicting classifications of pathogenicity | Malignant hyperthermia, susceptibility to, 5 |
| RS797045031 | Health Risk | Conflicting classifications of pathogenicity | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia |
| RS80338777 | Health Risk | Conflicting classifications of pathogenicity | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia |
| RS868409473 | Health Risk | Conflicting classifications of pathogenicity | Malignant hyperthermia, susceptibility to, 5 |
| RS891244994 | Health Risk | Conflicting classifications of pathogenicity | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia |
| RS892742196 | Health Risk | Conflicting classifications of pathogenicity | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia |
| RS970352258 | Health Risk | Conflicting classifications of pathogenicity | Malignant hyperthermia, susceptibility to, 5 |
| RS977298165 | Health Risk | Conflicting classifications of pathogenicity | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia |
| RS978624647 | Health Risk | Conflicting classifications of pathogenicity | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia |
| RS1185268927 | Health Risk | Likely pathogenic | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia |
| RS1263658448 | Health Risk | Likely pathogenic | Hypokalemic periodic paralysis, type 1, Hypokalemic periodic paralysis |
| RS1323823133 | Health Risk | Likely pathogenic | Malignant hyperthermia, susceptibility to, 5 |
| RS1558067283 | Health Risk | Likely pathogenic | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia |
| RS1558075630 | Health Risk | Likely pathogenic | — |
| RS1572036396 | Health Risk | Likely pathogenic | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia |
| RS1572049461 | Health Risk | Likely pathogenic | Hypokalemic periodic paralysis, type 1, Hypokalemic periodic paralysis |
| RS1660108555 | Health Risk | Likely pathogenic | Malignant hyperthermia, susceptibility to, 5 |
| RS1661088751 | Health Risk | Likely pathogenic | — |
| RS1663041820 | Health Risk | Likely pathogenic | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia |
| RS200487405 | Health Risk | Likely pathogenic | Abnormality of the musculature, Abnormality of the musculature |
| RS2102553716 | Health Risk | Likely pathogenic | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia |
| RS2102560621 | Health Risk | Likely pathogenic | Malignant hyperthermia, susceptibility to, 5 |
| RS2102573564 | Health Risk | Likely pathogenic | — |
| RS2464391048 | Health Risk | Likely pathogenic | Long QT syndrome, Long QT syndrome |
| RS2464393390 | Health Risk | Likely pathogenic | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia |
| RS2464503884 | Health Risk | Likely pathogenic | CACNA1S-related disorder, CACNA1S-related disorder |
| RS2464518149 | Health Risk | Likely pathogenic | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia |
| RS2464534175 | Health Risk | Likely pathogenic | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia |
| RS2464539498 | Health Risk | Likely pathogenic | Hypokalemic periodic paralysis, type 1, Hypokalemic periodic paralysis |
| RS2464539907 | Health Risk | Likely pathogenic | Malignant hyperthermia, susceptibility to, 5 |
| RS2464567071 | Health Risk | Likely pathogenic | Hypokalemic periodic paralysis, type 1, Hypokalemic periodic paralysis |
| RS2464625113 | Health Risk | Likely pathogenic | Malignant hyperthermia, susceptibility to, Malignant hyperthermia |
| RS2464633669 | Health Risk | Likely pathogenic | Congenital myopathy 18, Congenital myopathy 18 |
| RS267606698 | Health Risk | Likely pathogenic | Hypokalemic periodic paralysis, type 1, Hypokalemic periodic paralysis |
| RS760082356 | Health Risk | Likely pathogenic | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia |
| RS80338782 | Health Risk | Likely pathogenic | Malignant hyperthermia of anesthesia, Congenital myopathy 18, Malignant hyperthermia |
| RS1282907317 | Health Risk | Pathogenic | Congenital myopathy 18, Congenital myopathy 18 |
| RS1303215579 | Health Risk | Pathogenic | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia |
| RS1322458975 | Health Risk | Pathogenic | Congenital myopathy 18, Hypokalemic periodic paralysis, type 1 |
| RS1342285831 | Health Risk | Pathogenic | Malignant hyperthermia, susceptibility to, 5 |
| RS1351956022 | Health Risk | Pathogenic | Malignant hyperthermia, susceptibility to, 5 |
| RS1434902604 | Health Risk | Pathogenic | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia |
| RS1440652791 | Health Risk | Pathogenic | Malignant hyperthermia, susceptibility to, 5 |
| RS1449622779 | Health Risk | Pathogenic | Malignant hyperthermia, susceptibility to, 5 |
| RS1553252746 | Health Risk | Pathogenic | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia |
| RS1553254275 | Health Risk | Pathogenic | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia |
| RS1558071742 | Health Risk | Pathogenic | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia |
| RS1572019465 | Health Risk | Pathogenic | Malignant hyperthermia, susceptibility to, 5 |
| RS1572035834 | Health Risk | Pathogenic | Hypokalemic periodic paralysis, type 1, Malignant hyperthermia |