The RYR1 gene homepage

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
General information
Gene symbol RYR1
Gene name ryanodine receptor 1 (skeletal)
Chromosome 19
Chromosomal band q13.1
Imprinted Unknown
Genomic reference NG_008866.1
Transcript reference NM_000540.2
Exon/intron information NM_000540.2 exon/intron table
Associated with diseases CCD, CFTD, MHS, MHS1, MMD
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Jorge Oliveira and Johan den Dunnen
Total number of public variants reported 1978
Unique public DNA variants reported 927
Individuals with public variants 2501
Hidden variants 110
Notes This database is one of the gene variant databases from the:
Date created October 10, 2010
Date last updated July 11, 2022
Version RYR1:220711

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000540.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL European Malignant Hyperthermia Group (EMHG)
HGNC 10483
Entrez Gene 6261
PubMed articles RYR1
OMIM - Gene 180901
OMIM - Diseases CCD (central core disease (CCD))
CFTD (myopathy, congenital, with fiber type disproportion (CFTD))
MHS1 (hyperthermia, malignant, susceptibility, type 1 (MHS-1))
MMD (myopathy, minicore, external ophthalmoplegia (MMD))
GeneCards RYR1
GeneTests RYR1
Orphanet RYR1

Active transcripts




NCBI ID     

NCBI Protein ID     

00018333 19 transcript variant 1 NM_000540.2 NP_000531.2 1978

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2010-2022. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.