{{Rsnum
|rsid=367543055
|Chromosome=19
|Orientation=plus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=RYR1
|position=38485988
|Gene_s=RYR1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=19
|CLNACC=RCV000034928.1
|CLNALLE=1
|CLNDBN=Congenital myopathy with fiber type disproportion
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1259:C0546264:255310:2020:240084007
|CLNHGVS=NC_000019.9:g.38976628C>A
|CLNSIG=5
|CLNSRC=GeneReviews
|CLNSRCID=NBK1259
|Disease=Congenital myopathy with fiber type disproportion
|FwdALT=A
|FwdREF=C
|REF=C
|RSPOS=38976628
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050168000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=367543055
|GENEINFO=RYR1:6261
|GENE_ID=6261
|GENE_NAME=RYR1
}}{{PMID Auto
|PMID=20583297
|Title=Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.
}}