{{Rsnum
|rsid=118192178
|Chromosome=19
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=RYR1
|position=38500898
|Gene_s=RYR1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=118192178
|Reversed=0
|FwdREF=C
|FwdALT=G,T
|REF=C
|ALT=G,T
|RSPOS=38991538
|CHROM=19
|dbSNPBuildID=136
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=RYR1:6261
|GENE_NAME=RYR1
|GENE_ID=6261
|WGT=0
|VC=SNV
|CLNALLE=2
|CLNHGVS=NC_000019.9:g.38991538C>T
|CLNORIGIN=0
|CLNSIG=5
|CLNCUI=
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNACC=RCV000056228.1
|CLNDBN=Central core disease
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1290:NBK1391:C0751951:117000:597:598:43152001
|CLNSRC=GeneReviews
|CLNSRCID=NBK1391
|Disease=Central core disease
}}
{{omim
|id=117000
|rsnum=118192178
}}{{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=16732084
|Title=Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing.
}}

{{PMID Auto
|PMID=16917943
|Title=Mutations in RYR1 in malignant hyperthermia and central core disease.
}}