{{Rsnum
|rsid=118192117
|Chromosome=19
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=RYR1
|position=38451846
|Gene_s=RYR1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=C
|CHROM=19
|CLNACC=RCV000034926.1; RCV000056214.1
|CLNALLE=1
|CLNDBN=Congenital myopathy with fiber type disproportion; Central core disease
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1259:C0546264:255310:2020:240084007; NBK1290:NBK1391:C0751951:117000:597:598:43152001
|CLNHGVS=NC_000019.9:g.38942486T>C
|CLNORIGIN=0
|CLNSIG=5
|CLNSRC=GeneReviews
|CLNSRCID=NBK1259; NBK1391
|Disease=Congenital myopathy with fiber type disproportion; Central core disease
|FwdALT=C
|FwdREF=T
|GENEINFO=RYR1:6261
|GENE_ID=6261
|GENE_NAME=RYR1
|REF=T
|RSPOS=38942486
|Reversed=0
|SAO=1
|SSR=0
|Tags=PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050368000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=118192117
}}{{PMID Auto
|PMID=17033962
|Title=Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.
|OA=1
}}

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

{{PMID Auto
|PMID=20583297
|Title=Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.
}}