RYR1 Chromosome 19

Ryanodine receptor 1
1315 variants 24 Drug Response 1291 Health Risk

Upload your DNA to see your personal genotypes for variants in RYR1.

What This Gene Does
This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Ryanodine receptors|Protein phosphatase 1 regulatory subunits"
Locus Type
gene with protein product
Location
19q13.2
Ensembl
ENSG00000196218
Associated Conditions (74)
Central core myopathy
RYR1-related disorder
King Denborough syndrome
desflurane response - Toxicity
halothane response - Toxicity
enflurane response - Toxicity
isoflurane response - Toxicity
methoxyflurane response - Toxicity
sevoflurane response - Toxicity
succinylcholine response - Toxicity
RYR1-related myopathy
Malignant hyperthermia
susceptibility to
1
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia of anesthesia
Congenital myopathy with fiber type disproportion
Inborn genetic diseases
Congenital myopathy
Myopathy
+54 more conditions
Key Variants
RS118192124
Likely pathogenic; drug response
Central core myopathy, RYR1-related disorder, King Denborough syndrome
Drug Response
RS121918596
Likely pathogenic; drug response
Malignant hyperthermia, susceptibility to, 1
Drug Response
RS193922748
Likely pathogenic; drug response
RYR1-related disorder, sevoflurane response - Toxicity, Malignant hyperthermia
Drug Response
RS193922762
Likely pathogenic; drug response
Malignant hyperthermia, susceptibility to, 1
Drug Response
RS193922770
Likely pathogenic; drug response
RYR1-related disorder, desflurane response - Toxicity, halothane response - Toxicity
Drug Response
RS193922818
Likely pathogenic; drug response
RYR1-related disorder, Malignant hyperthermia, susceptibility to
Drug Response
RS193922832
Likely pathogenic; drug response
RYR1-related disorder, sevoflurane response - Toxicity, desflurane response - Toxicity
Drug Response
RS193922876
Likely pathogenic; drug response
desflurane response - Toxicity, enflurane response - Toxicity, succinylcholine response - Toxicity
Drug Response
RS193922878
Likely pathogenic; drug response
desflurane response - Toxicity, halothane response - Toxicity, isoflurane response - Toxicity
Drug Response
RS28933397
Likely pathogenic; drug response
Malignant hyperthermia, susceptibility to, 1
Drug Response
RS118192122
Pathogenic; drug response
Central core myopathy, Malignant hyperthermia, susceptibility to
Drug Response
RS118192161
Pathogenic; drug response
Malignant hyperthermia, susceptibility to, 1
Drug Response
All Variants (1315)
RSID Category Clinical Significance Conditions
RS1355781735 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1357186643 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital myopathy with fiber type disproportion, Central core myopathy
RS1364240080 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1365856881 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Central core myopathy, Malignant hyperthermia
RS1374937370 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1377179094 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1377274434 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to, 1
RS137932199 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1379806132 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1380227293 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS138156449 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS138325444 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital myopathy with fiber type disproportion, Congenital multicore myopathy with external ophthalmoplegia
RS1384515505 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS138593495 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to, 1
RS1385985785 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS138617219 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia
RS138630815 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS138704724 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia, susceptibility to
RS1388577237 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to, 1
RS139069946 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Inborn genetic diseases, Malignant hyperthermia
RS1392237616 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS139339574 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, RYR1-related disorder, Malignant hyperthermia
RS139409128 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS140037232 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to, 1
RS1403616422 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1405203955 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS140573900 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to, 1
RS1406317092 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS140689610 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia, susceptibility to
RS141107290 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia, susceptibility to
RS141298868 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia, Central core myopathy
RS1413000730 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS141542477 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia, susceptibility to
RS1416605332 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS141689968 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1417337927 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to, 1
RS141838633 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1420692006 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia, RYR1-related disorder
RS142548565 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS142558977 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to, 1
RS143179371 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Central core myopathy, Malignant hyperthermia
RS143418190 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to, 1
RS1434232361 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS143445685 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS143481004 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Inborn genetic diseases, Malignant hyperthermia
RS143681974 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1438212286 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia
RS1438501767 Health Risk Conflicting classifications of pathogenicity Central core myopathy, Malignant hyperthermia, susceptibility to
RS143861818 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to, 1
RS1440262870 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital myopathy with fiber type disproportion, Malignant hyperthermia
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