{{Rsnum
|rsid=118192171
|Chromosome=19
|Orientation=plus
|geno1=(AC;AC)
|geno2=(AC;TT)
|geno3=(TT;TT)
|Gene=RYR1
|position=38585057
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=RYR1
}}{{omim
|id=180901
|rsnum=118192171
|variant=0033
}}{{ClinVar
|rsid=118192171
|Reversed=0
|FwdREF=TT
|FwdALT=AC
|REF=CTT
|ALT=CAC
|RSPOS=39075696
|CHROM=19
|dbSNPBuildID=136
|SSR=0
|SAO=1
|VP=0x050168000000000002110800
|GENEINFO=RYR1:6261
|GENE_NAME=RYR1
|GENE_ID=6261
|WGT=0
|VC=MNV
|CLNALLE=1
|CLNHGVS=NC_000019.9:g.39075697_39075698delTTinsAC
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=180901.0033
|CLNSIG=5
|CLNCUI=C2674259; C0751951
|CLNDBN=Neuromuscular disease, congenital, with uniform type 1 fiber; Central core disease
|Disease=Neuromuscular disease; Central core disease
|CLNACC=RCV000013868.16; RCV000013869.22
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=MedGen; GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=C2674259; NBK1290:NBK1391:C0751951:117000:597:598:43152001
}}{{PMID Auto
|PMID=16621918
|Title=Central core disease is due to RYR1 mutations in more than 90% of patients.
}}

{{PMID Auto
|PMID=17538032
|Title=Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation.
}}