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

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

Drug Response

RS193922762

Likely pathogenic; drug response

Malignant hyperthermia, susceptibility to, 1

Drug Response

RS193922770

Likely pathogenic; drug response

Drug Response

RS193922818

Likely pathogenic; drug response

Drug Response

RS193922832

Likely pathogenic; drug response

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
RS193922771	Health Risk	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia, RYR1-related disorder, Malignant hyperthermia
RS193922808	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS193922839	Health Risk	Conflicting classifications of pathogenicity	Progressive distal muscle weakness, Pelvic girdle muscle weakness, Delayed gross motor development
RS193922846	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia, Central core myopathy
RS193922852	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia of anesthesia, Malignant hyperthermia, susceptibility to
RS193922854	Health Risk	Conflicting classifications of pathogenicity	Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS193922875	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Central core myopathy, Malignant hyperthermia
RS193922884	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Central core myopathy, Malignant hyperthermia
RS193922888	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder
RS193922894	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS193922895	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1966899604	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1967149532	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1968178599	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder
RS1969271215	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1969490927	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1
RS1969594703	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1
RS1969830618	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Inborn genetic diseases, RYR1-related disorder
RS1970033550	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1970341946	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1
RS1970727401	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder
RS1970754416	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1971019633	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1
RS1971495978	Health Risk	Conflicting classifications of pathogenicity	Central core myopathy, Malignant hyperthermia, susceptibility to
RS1971528310	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1971785665	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Inborn genetic diseases, Malignant hyperthermia
RS1971892935	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1971910520	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1974046221	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1974401494	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1974410266	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia of anesthesia, Malignant hyperthermia of anesthesia
RS1974465381	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, RYR1-related disorder, Inborn genetic diseases
RS1974467952	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder
RS199667629	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder
RS199689862	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1
RS199691436	Health Risk	Conflicting classifications of pathogenicity	Central core myopathy, Malignant hyperthermia, susceptibility to
RS199828145	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS199837883	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1
RS199947661	Health Risk	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia, Central core myopathy, Malignant hyperthermia
RS200068725	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS200124278	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS200144997	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS200289457	Health Risk	Conflicting classifications of pathogenicity	Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS200427576	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS200546266	Health Risk	Conflicting classifications of pathogenicity	Congenital myopathy, RYR1-related disorder, Fetal akinesia deformation sequence 1
RS200563280	Health Risk	Conflicting classifications of pathogenicity	Multi-minicore disease and atypical periodic paralysis, Malignant hyperthermia, susceptibility to
RS200600174	Health Risk	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia, susceptibility to
RS200622493	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1
RS200698933	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1
RS200777598	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1

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