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rs28933396

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 6 quite likely to have central core disease
(A;G) 3 can be associated with central core disease
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome19
Position38499997
GeneRYR1
is asnp
is mentioned by
dbSNPrs28933396
ebirs28933396
HLIrs28933396
Exacrs28933396
Varsomers28933396
Maprs28933396
PheGenIrs28933396
hapmaprs28933396
1000 genomesrs28933396
hgdprs28933396
ensemblrs28933396
gopubmedrs28933396
geneviewrs28933396
scholarrs28933396
googlers28933396
pharmgkbrs28933396
gwascentralrs28933396
openSNPrs28933396
23andMers28933396
23andMe allrs28933396
SNP Nexus

SNPshotrs28933396
SNPdbers28933396
MSV3drs28933396
GWAS Ctlgrs28933396
Max Magnitude6
OMIM180901
DescCENTRAL CORE DISEASE
Variant0003
Relatedalso
rs28933396, aka p.Arg2435His or p.R2435H, is a SNP in the RYR1 gene associated with central core disease.

This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249OA-icon.png]

Neighborrs28933397
Distance657


ClinVar
Risk rs28933396(A,T;A,T)
Alt rs28933396(A,T;A,T)
Reference rs28933396(G;G)
Significance Pathogenic
Disease Central core disease not provided
Variation info
Gene RYR1
CLNDBN Central core disease not provided
Reversed 0
HGVS NC_000019.9:g.38990637G>A; NC_000019.9:g.38990637G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013832.17, RCV000119699.1, RCV000119700.1,



[PMID 8220422] A mutation in the human ryanodine receptor gene associated with central core disease.


[PMID 9030597] Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle.


[PMID 12434] Neurochemical changes following the administration of depleters of biogenic monoamines.


[PMID 16732084] Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing.


[PMID 16835904] Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.


[PMID 16917943] Mutations in RYR1 in malignant hyperthermia and central core disease.


[PMID 19513315OA-icon.png] A double mutation of the ryanodine receptor type 1 gene in a malignant hyperthermia family with multiminicore myopathy.


[PMID 17483490] Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.