LOVD RYR1 homepage

General information
Gene name RYanodine Receptor 1 (skeletal)
Gene symbol RYR1
Chromosome Location 19q13.1
Database location the Leiden Muscular Dystrophy pages
Curator Jorge Oliveira and Johan den Dunnen
PubMed references View all (unique) PubMed references in the RYR1 database
Date of creation October 10, 2010
Last update March 31, 2017
Version RYR1 170331
Add sequence variant Submit a sequence variant
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_008866.1
Transcript refseq ID NM_000540.2
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 435
Total number of individuals with variant(s) 1935
Total number of variants reported 2129
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the RYR1 database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the RYR1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the RYR1 database
Variants with no known pathogenicity Listing of all RYR1 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
HGNC 10483
Entrez Gene 6261
OMIM - Gene 180901
OMIM - Disease #1 malignant hyperthermia, susceptibility, type-1 (MHS-1)
OMIM - Disease #2 central core disease (CCD)
OMIM - Disease #3 minicore myopathy, external ophthalmoplegia (MMD)
GeneCards RYR1
GeneTests RYR1
External link European Malignant Hyperthermia Group (EMHG)

Copyright & disclaimer
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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 out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the 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.