rs63749869
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 4 | likely severe central core disease |
| (G;G) | 0 | common in clinvar |
| Make rs63749869(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 38580440 |
| Gene | RYR1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63749869 |
| dbSNP (classic) | rs63749869 |
| ClinGen | rs63749869 |
| ebi | rs63749869 |
| HLI | rs63749869 |
| Exac | rs63749869 |
| Gnomad | rs63749869 |
| Varsome | rs63749869 |
| LitVar | rs63749869 |
| Map | rs63749869 |
| PheGenI | rs63749869 |
| Biobank | rs63749869 |
| 1000 genomes | rs63749869 |
| hgdp | rs63749869 |
| ensembl | rs63749869 |
| geneview | rs63749869 |
| scholar | rs63749869 |
| rs63749869 | |
| pharmgkb | rs63749869 |
| gwascentral | rs63749869 |
| openSNP | rs63749869 |
| 23andMe | rs63749869 |
| SNPshot | rs63749869 |
| SNPdbe | rs63749869 |
| MSV3d | rs63749869 |
| GWAS Ctlg | rs63749869 |
| Max Magnitude | 4 |
| 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 UniProtKB (protein) |
| CLNACC | RCV000013852.24, RCV000013853.17, RCV000119533.2, |
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.
