{{Rsnum
|rsid=118192167
|Chromosome=19
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=RYR1
|position=38580004
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=RYR1
}}{{omim
|id=180901
|rsnum=118192167
|variant=0016
}}{{ClinVar
|rsid=118192167
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=39070644
|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.39070644A>G
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK1391; 180901.0016
|CLNSIG=255
|CLNCUI=C0751951; C0024591
|CLNDBN=Central core disease; Malignant hyperthermia
|Disease=Central core disease; Malignant hyperthermia
|CLNACC=RCV000013848.17; RCV000013849.1
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT; GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1290:NBK1391:C0751951:117000:597:598:43152001; NBK1146:C0024591:145600:423
}}{{PMID Auto
|PMID=11063719
|Title=An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.
}}

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