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
RS587784376	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS587784379	Health Risk	Conflicting classifications of pathogenicity	Fetal akinesia deformation sequence 1, Arthrogryposis multiplex congenita, RYR1-related disorder
RS61739895	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS61739911	Health Risk	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia, susceptibility to
RS727504131	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder
RS745432757	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Central core myopathy, Malignant hyperthermia
RS745569223	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Central core myopathy, Malignant hyperthermia
RS745844424	Health Risk	Conflicting classifications of pathogenicity	Central core myopathy, Malignant hyperthermia, susceptibility to
RS745926203	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS746538672	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related myopathy, Malignant hyperthermia
RS746611627	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS746765869	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder
RS746914281	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS747045754	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS747388850	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder
RS747434152	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS747718728	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS747783902	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS748143185	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS748568687	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1
RS748743312	Health Risk	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia, susceptibility to
RS748844266	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS749086771	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS749285937	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS749656679	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS750141316	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder
RS750275456	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS750303767	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS750305530	Health Risk	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia, susceptibility to
RS750322384	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1
RS750872878	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS750938678	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1
RS750987143	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder
RS751251863	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder
RS751798987	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS752477271	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS752615788	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1
RS752849270	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS752993876	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS753208767	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Inborn genetic diseases, Malignant hyperthermia
RS753416949	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS753425281	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1
RS753538619	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS753726014	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Inborn genetic diseases, Malignant hyperthermia
RS753918895	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder
RS754002399	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS754522209	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS754572007	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS754645461	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS754753605	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder

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