{{Rsnum
|rsid=118192168
|Chromosome=19
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=RYR1
|position=38580403
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=RYR1
}}{{omim
|id=180901
|rsnum=118192168
|variant=0022
}}{{ClinVar
|rsid=118192168
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=39071043
|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.39071043G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=180901.0022
|CLNSIG=5
|CLNCUI=C1850674
|CLNDBN=Central core disease, autosomal recessive; Minicore myopathy with external ophthalmoplegia
|Disease=Central core disease; Minicore myopathy with external ophthalmoplegia
|CLNACC=RCV000013855.22; RCV000013856.23
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1290:C1850674:255320:598
}}{{PMID Auto
|PMID=12136074
|Title=Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.
}}

{{PMID Auto
|PMID=17226826
|Title=Central core disease due to recessive mutations in RYR1 gene: is it more common than described?
}}

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

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

{{PMID Auto
|PMID=18253926
|Title=Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
}}