rs118192168
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 5 | likely severe central core disease |
| (A;G) | 3 | malignant hyperthermia; central core disease (possible) |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 38580403 |
| Gene | RYR1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs118192168 |
| dbSNP (classic) | rs118192168 |
| ClinGen | rs118192168 |
| ebi | rs118192168 |
| HLI | rs118192168 |
| Exac | rs118192168 |
| Gnomad | rs118192168 |
| Varsome | rs118192168 |
| LitVar | rs118192168 |
| Map | rs118192168 |
| PheGenI | rs118192168 |
| Biobank | rs118192168 |
| 1000 genomes | rs118192168 |
| hgdp | rs118192168 |
| ensembl | rs118192168 |
| geneview | rs118192168 |
| scholar | rs118192168 |
| rs118192168 | |
| pharmgkb | rs118192168 |
| gwascentral | rs118192168 |
| openSNP | rs118192168 |
| 23andMe | rs118192168 |
| SNPshot | rs118192168 |
| SNPdbe | rs118192168 |
| MSV3d | rs118192168 |
| GWAS Ctlg | rs118192168 |
| Max Magnitude | 5 |
aka c.14545G>A (p.Val4849Ile or V4849I)
23andMe name: i5008290
| ClinVar | |
|---|---|
| Risk | Rs118192168(A;A) |
| Alt | Rs118192168(A;A) |
| Reference | Rs118192168(G;G) |
| Significance | Pathogenic |
| Disease | Central core disease Minicore myopathy with external ophthalmoplegia not provided |
| Variation | info |
| Gene | RYR1 |
| CLNDBN | Central core disease, autosomal recessive Minicore myopathy with external ophthalmoplegia not provided |
| Reversed | 0 |
| HGVS | NC_000019.9:g.39071043G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013855.24, RCV000013856.25, RCV000119527.1, |
[PMID 12136074] Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.
[PMID 17226826] Central core disease due to recessive mutations in RYR1 gene: is it more common than described?
[PMID 16372898
] Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes.
[PMID 16917943] Mutations in RYR1 in malignant hyperthermia and central core disease.
[PMID 17483490] Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
[PMID 18253926] Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
