{{Rsnum
|rsid=118192165
|Chromosome=19
|Orientation=plus
|geno1=(-;-)
|geno2=(-;CGCCAGTTC)
|geno3=(CGCCAGTTC;CGCCAGTTC)
|Gene=RYR1
|position=38564974
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=RYR1
}}{{omim
|id=180901
|rsnum=118192165
|variant=0018
}}{{ClinVar
|rsid=118192165
|Reversed=0
|FwdREF=CGCCAGTTC
|FwdALT=
|REF=GCGCCAGTTC
|ALT=G
|RSPOS=39055613
|CHROM=19
|dbSNPBuildID=136
|SSR=0
|SAO=1
|VP=0x050168000000000002110200
|GENEINFO=RYR1:6261
|GENE_NAME=RYR1
|GENE_ID=6261
|WGT=0
|VC=DIV
|CLNALLE=1
|CLNHGVS=NC_000019.9:g.39055614_39055622delCGCCAGTTC
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=180901.0018
|CLNSIG=5
|CLNCUI=C0751951
|CLNDBN=Central core disease
|Disease=Central core disease
|CLNACC=RCV000013851.16
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1290:NBK1391:C0751951:117000:597:598:43152001
}}{{PMID Auto
|PMID=11389482
|Title=Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype.
|OA=1
}}

{{PMID Auto
|PMID=16958053
|Title=Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanisms.
}}

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