{{Rsnum
|rsid=118192183
|Chromosome=19
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=RYR1
|position=38584992
|Gene_s=RYR1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=19
|CLNALLE=1
|CLNDBN=Central core disease
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1290:NBK1391:C0751951:117000:597:598:43152001
|CLNHGVS=NC_000019.9:g.39075632G>A
|CLNORIGIN=0
|CLNSIG=5
|Disease=Central core disease
|FwdALT=A
|FwdREF=G
|GENEINFO=RYR1:6261
|GENE_ID=6261
|GENE_NAME=RYR1
|REF=G
|RSPOS=39075632
|Reversed=0
|SAO=1
|SSR=0
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050168000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=118192183
|CLNACC=RCV000056195.1
|CLNSRC=GeneReviews
|CLNSRCID=NBK1391
}}{{PMID Auto
|PMID=11709545
|Title=Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.
}}

{{PMID Auto
|PMID=16621918
|Title=Central core disease is due to RYR1 mutations in more than 90% of patients.
}}