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rs63749869

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 4 likely severe central core disease
(G;G) 0 common in clinvar


Make rs63749869(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position38580440
GeneRYR1
is asnp
is mentioned by
dbSNPrs63749869
ebirs63749869
HLIrs63749869
Exacrs63749869
Varsomers63749869
Maprs63749869
PheGenIrs63749869
hapmaprs63749869
1000 genomesrs63749869
hgdprs63749869
ensemblrs63749869
gopubmedrs63749869
geneviewrs63749869
scholarrs63749869
googlers63749869
pharmgkbrs63749869
gwascentralrs63749869
openSNPrs63749869
23andMers63749869
23andMe allrs63749869
SNP Nexus

SNPshotrs63749869
SNPdbers63749869
MSV3drs63749869
GWAS Ctlgrs63749869
Max Magnitude4
OMIM180901
Desc
Variant0019
Relatedalso


ClinVar
Risk rs63749869(A;A)
Alt rs63749869(A;A)
Reference rs63749869(G;G)
Significance Pathogenic
Disease Central core disease Neuromuscular disease not provided
Variation info
Gene RYR1
CLNDBN Central core disease Neuromuscular disease, congenital, with uniform type 1 fiber not provided
Reversed 0
HGVS NC_000019.9:g.39071080G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013852.24, RCV000013853.17, RCV000119533.1,



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 11709545] Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.


[PMID 11741831] 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 17538032] Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation.


[PMID 16621918] Central core disease is due to RYR1 mutations in more than 90% of patients.


[PMID 17081152] Malignant hyperthermia and central core disease causative mutations in Swedish patients.


[PMID 17226826] Central core disease due to recessive mutations in RYR1 gene: is it more common than described?


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