{{Rsnum
|rsid=118192164
|Chromosome=19
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=RYR1
|position=38525455
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=RYR1
}}{{omim
|id=180901
|rsnum=118192164
|variant=0021
}}{{ClinVar
|rsid=118192164
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=39016095
|CHROM=19
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=RYR1:6261
|GENE_NAME=RYR1
|GENE_ID=6261
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000019.9:g.39016095C>T
|CLNORIGIN=1
|CLNSIG=5
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNACC=RCV000013854.23
|CLNDBN=Central core disease, autosomal recessive
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=180901.0021
|Disease=Central core disease
}}{{PMID Auto
|PMID=12112081
|Title=A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene.
}}

{{PMID Auto
|PMID=16372898
|Title=Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes.
|OA=1
}}

{{PMID Auto
|PMID=17204937
|Title=Abnormal distribution of calcium-handling proteins: a novel distinctive marker in core myopathies.
}}