{{Rsnum
|rsid = 28933396
|Gene = RYR1
|geno1 = (A;A)
|geno2 = (A;G)
|geno3 = (G;G)
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|Chromosome=19
|position=38499997
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=RYR1
}}{{omim
|desc=CENTRAL CORE DISEASE
|id=180901
|rsnum=28933396
|variant=0003
}}
{{ neighbor
| rsid = 28933397
| distance = 657
}}

{{PharmGKB
|RSID=rs28933396
|Name_s=p.R2435H
|Gene_s=RYR1
|Feature=
|Evidence=PubMed ID:19648156
|Annotation=Risk or phenotype-associated allele: A. Phenotype: Different RYR1 variants are associated with significant differences in in vitro contracture tests (IVCT) and creatine kinase (CK) phenotypes; more specifically, the variants p.R163C, p.R2163H (rs28933999 G to A), p.R2435H (rs28933396 G to A), and p.T4826I were significantly associated with a more severe form of each quantitative phenotype Study size: 450. Study population/ethnicity: Malignant hyperthermia -susceptible individuals (Caucasians).
|Drugs=
|Drug Classes=
|Diseases=Malignant Hyperthermia
|Curation Level=Curated
|PharmGKB Accession ID=PA165110374
}}

{{PharmGKB
|RSID=rs28933396
|Name_s=RYR1:ARG2435HIS; RYR1:ARG2434HIS;  RYR1:ARG2436HIS
|Gene_s=RYR1
|Feature=
|Evidence=PubMed ID:10051009; PubMed ID:7881417
|Annotation=Central Core Disease.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA161145111
}}

{{ClinVar
|rsid=28933396
|Reversed=0
|FwdREF=G
|FwdALT=A,T
|REF=G
|ALT=A,T
|RSPOS=38990637
|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.38990637G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=180901.0003
|CLNSIG=5
|CLNCUI=C0751951
|CLNDBN=Central core disease
|Disease=Central core disease
|CLNACC=RCV000013832.16
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1290:NBK1391:C0751951:117000:597:598:43152001
}}

[[rs28933396]], aka p.Arg2435His or p.R2435H, is a SNP in the [[RYR1]] gene associated with [[central core disease]].

{{PMID Auto
|PMID=8220422
|Title=A mutation in the human ryanodine receptor gene associated with central core disease.
}}

{{PMID Auto
|PMID=9030597
|Title=Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle.
}}

{{PMID Auto
|PMID=12434
|Title=Neurochemical changes following the administration of depleters of biogenic monoamines.
}}

{{PMID Auto
|PMID=16732084
|Title=Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing.
}}

{{PMID Auto
|PMID=16835904
|Title=Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.
}}

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

{{PMID Auto
|PMID=19513315
|Title=A double mutation of the ryanodine receptor type 1 gene in a malignant hyperthermia family with multiminicore myopathy.
|OA=1
}}

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

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}