{{Rsnum
|rsid=63749869
|Chromosome=19
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=RYR1
|position=38580440
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=RYR1
}}{{omim
|id=180901
|rsnum=63749869
|variant=0019
}}

{{ClinVar
|rsid=63749869
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=39071080
|CHROM=19
|dbSNPBuildID=130
|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.39071080G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=180901.0019
|CLNSIG=5
|CLNCUI=C0751951; C2674259
|CLNDBN=Central core disease; Neuromuscular disease, congenital, with uniform type 1 fiber
|Disease=Central core disease; Neuromuscular disease
|CLNACC=RCV000013852.23; RCV000013853.16
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT; MedGen
|CLNDSDBID=NBK1290:NBK1391:C0751951:117000:597:598:43152001; C2674259
}}

[[rs63749869]], aka p.Arg4861His or p.R4861H, is a SNP in the [[RYR1]] gene associated with [[central core disease]] as well as a congenital neuromuscular disease.

{{PMID Auto
|PMID=11709545
|Title=Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.
}}

{{PMID Auto
|PMID=11741831
|Title=Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis.
}}

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

{{PMID Auto
|PMID=16621918
|Title=Central core disease is due to RYR1 mutations in more than 90% of patients.
}}

{{PMID Auto
|PMID=17081152
|Title=Malignant hyperthermia and central core disease causative mutations in Swedish patients.
}}

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

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

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}