{{Rsnum
|rsid=118192181
|Chromosome=19
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=RYR1
|position=38580439
|Gene_s=RYR1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|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.39071079C>T
|CLNORIGIN=0
|CLNSIG=5
|Disease=Central core disease
|FwdALT=T
|FwdREF=C
|GENEINFO=RYR1:6261
|GENE_ID=6261
|GENE_NAME=RYR1
|REF=C
|RSPOS=39071079
|Reversed=0
|SAO=1
|SSR=0
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050168000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=118192181
|CLNACC=RCV000056233.1
|CLNSRC=GeneReviews
|CLNSRCID=NBK1391
}}{{PMID Auto
|PMID=12565913
|Title=Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.
}}

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

{{PMID Auto
|PMID=17226826
|Title=Central core disease due to recessive mutations in RYR1 gene: is it more common than described?
}}

{{PMID Auto
|PMID=17483490
|Title=Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
}}