{{Rsnum
|rsid=118192170
|Chromosome=19
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=RYR1
|position=38584989
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=RYR1
}}{{omim
|id=180901
|rsnum=118192170
|variant=0012
}}{{ClinVar
|rsid=118192170
|Reversed=0
|FwdREF=T
|FwdALT=C
|REF=T
|ALT=C
|RSPOS=39075629
|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.39075629T>C
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=180901.0012; 180901.0020
|CLNSIG=255
|CLNCUI=C0751951; C0024591
|CLNDBN=Central core disease; Malignant hyperthermia
|Disease=Central core disease; Malignant hyperthermia
|CLNACC=RCV000013843.23; RCV000013844.1
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT; GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1290:NBK1391:C0751951:117000:597:598:43152001; NBK1146:C0024591:145600:423
}}

[[rs118192170]], aka p.Ile4898Thr or p.I4898T, is a SNP in the [[RYR1]] gene associated with both [[malignant hyperthermia]] and [[central core disease]] when heterozygous.

{{PMID Auto
|PMID=10097181
|Title=A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease.
|OA=1
}}

{{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=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.
}}