RYR1 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol RYR1
Gene name ryanodine receptor 1 (skeletal)
Chromosome 19
Chromosomal band q13.1
Imprinted Unknown
Genomic reference NC_000019.9
Transcript reference NM_000540.2, NM_001042723.1
Associated with diseases -
Citation reference(s) -
Curators (0) -
Total number of public variants reported 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 12, 2013
Links to other resources
HGNC 10483
Entrez Gene 6261
PubMed articles RYR1
OMIM - Gene 180901
HGMD RYR1
GeneCards RYR1
GeneTests RYR1


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00001107 19 transcript variant 1 NM_000540.2 NP_000531.2 0
00001108 19 transcript variant 2 NM_001042723.1 NP_001036188.1 0


Copyright & disclaimer
; NuclearMitome http://www.transgenomic.com

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

  Powered by LOVD v.3.0 Build 21
LOVD software ©2004-2018 Leiden University Medical Center