rs72546668
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs72546668(C;T) |
| Make rs72546668(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 8745644 |
| Gene | CAV3, SSUH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72546668 |
| dbSNP (classic) | rs72546668 |
| ClinGen | rs72546668 |
| ebi | rs72546668 |
| HLI | rs72546668 |
| Exac | rs72546668 |
| Gnomad | rs72546668 |
| Varsome | rs72546668 |
| LitVar | rs72546668 |
| Map | rs72546668 |
| PheGenI | rs72546668 |
| Biobank | rs72546668 |
| 1000 genomes | rs72546668 |
| hgdp | rs72546668 |
| ensembl | rs72546668 |
| geneview | rs72546668 |
| scholar | rs72546668 |
| rs72546668 | |
| pharmgkb | rs72546668 |
| gwascentral | rs72546668 |
| openSNP | rs72546668 |
| 23andMe | rs72546668 |
| SNPshot | rs72546668 |
| SNPdbe | rs72546668 |
| MSV3d | rs72546668 |
| GWAS Ctlg | rs72546668 |
| GMAF | 0.001837 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs72546668(A;A) rs72546668(T;T) |
| Alt | rs72546668(A;A) rs72546668(T;T) |
| Reference | Rs72546668(C;C) |
| Significance | Other |
| Disease | not provided Long QT syndrome 9 Long QT syndrome 2/9 not specified Long QT syndrome Cardiovascular phenotype |
| Variation | info |
| Gene | SSUH2 CAV3 |
| CLNDBN | not provided Long QT syndrome 9 Long QT syndrome 2/9, digenic not specified Long QT syndrome Cardiovascular phenotype |
| Reversed | 0 |
| HGVS | NC_000003.11:g.8787330C>A; NC_000003.11:g.8787330C>T |
| CLNSRC | HGMD Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000119382.1, RCV000008790.2, RCV000008791.2, RCV000024406.8, RCV000039801.6, RCV000168328.5, RCV000242756.1, |
[PMID 16770780] CAV3 gene mutation analysis in patients with idiopathic hyper-CK-emia.
[PMID 17060380] Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.
[PMID 17275750
] Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3.
[PMID 18253147] Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro.
[PMID 16770780] CAV3 gene mutation analysis in patients with idiopathic hyper-CK-emia.
[PMID 17060380] Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.
[PMID 17210839] Prevalence of long-QT syndrome gene variants in sudden infant death syndrome.
[PMID 17275750] Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3.
[PMID 18253147] Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro.
[PMID 22245016] Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes.
