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
RS118192131	Health Risk	Conflicting classifications of pathogenicity	Central core myopathy, RYR1-related disorder, Central core myopathy
RS118192136	Health Risk	Conflicting classifications of pathogenicity	Central core myopathy, RYR1-related disorder, Malignant hyperthermia
RS118192143	Health Risk	Conflicting classifications of pathogenicity	Central core myopathy, RYR1-related disorder, Malignant hyperthermia
RS118192166	Health Risk	Conflicting classifications of pathogenicity	Central core myopathy, Malignant hyperthermia of anesthesia, RYR1-related disorder
RS118192173	Health Risk	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia, RYR1-related disorder, Congenital myopathy with fiber type disproportion
RS118192174	Health Risk	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia, Clubfoot, EMG abnormality
RS118192176	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1
RS118192179	Health Risk	Conflicting classifications of pathogenicity	Central core myopathy, RYR1-related disorder, RYR1-related disorder
RS118192181	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder, RYR1-related disorder
RS1186905126	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1188156028	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1189024951	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1199304403	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Central core myopathy, Malignant hyperthermia
RS1200789458	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder
RS1207360336	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1
RS1211340506	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Inborn genetic diseases, RYR1-related disorder
RS1212509590	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder
RS1212717189	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder
RS1214096526	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1
RS1220780685	Health Risk	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia, RYR1-related disorder, Malignant hyperthermia
RS1221087983	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1229854214	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1230243590	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1232312472	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1238215145	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Congenital myopathy with fiber type disproportion, Malignant hyperthermia
RS1238566593	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1242518055	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1248355799	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Malignant hyperthermia, susceptibility to
RS1251260760	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder
RS1263237391	Health Risk	Conflicting classifications of pathogenicity	Central core myopathy, Central core myopathy
RS1266378538	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1274780855	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder, Central core myopathy
RS1278804520	Health Risk	Conflicting classifications of pathogenicity	Central core myopathy, RYR1-related disorder, Malignant hyperthermia
RS1280134766	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1281542312	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Central core myopathy, Malignant hyperthermia
RS1281875506	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1283174775	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1287127447	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1292456827	Health Risk	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1
RS1313713863	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1314510894	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1315255373	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1317036540	Health Risk	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia, susceptibility to
RS1319877486	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS1330899688	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1335486327	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder
RS1346257891	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia, Central core myopathy
RS1346638416	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1346649518	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, Malignant hyperthermia, susceptibility to
RS1350916629	Health Risk	Conflicting classifications of pathogenicity	RYR1-related disorder, RYR1-related disorder

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