rs45546039
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 5 | associated with cardiomyopathy and arrhythmias |
| (A;G) | 5 | Romano-Ward Long QT Syndrome |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 38613781 |
| Gene | SCN5A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs45546039 |
| dbSNP (classic) | rs45546039 |
| ClinGen | rs45546039 |
| ebi | rs45546039 |
| HLI | rs45546039 |
| Exac | rs45546039 |
| Gnomad | rs45546039 |
| Varsome | rs45546039 |
| LitVar | rs45546039 |
| Map | rs45546039 |
| PheGenI | rs45546039 |
| Biobank | rs45546039 |
| 1000 genomes | rs45546039 |
| hgdp | rs45546039 |
| ensembl | rs45546039 |
| geneview | rs45546039 |
| scholar | rs45546039 |
| rs45546039 | |
| pharmgkb | rs45546039 |
| gwascentral | rs45546039 |
| openSNP | rs45546039 |
| 23andMe | rs45546039 |
| SNPshot | rs45546039 |
| SNPdbe | rs45546039 |
| MSV3d | rs45546039 |
| GWAS Ctlg | rs45546039 |
| Max Magnitude | 5 |
rs45546039, also known as c.665G>A, Arg222Gln or R222Q, is a SNP in the cardiac sodium channel SCN5A gene.
The rs45546039(A) allele is considered highly associated with dilated cardiomyopathy (CMD) and possibly long QT syndrome; see OMIM for discussion.
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 23788249
]
| ClinVar | |
|---|---|
| Risk | Rs45546039(A;A) |
| Alt | Rs45546039(A;A) |
| Reference | Rs45546039(G;G) |
| Significance | Pathogenic |
| Disease | Dilated cardiomyopathy 1E Congenital long QT syndrome not provided Primary dilated cardiomyopathy Brugada syndrome |
| Variation | info |
| Gene | SCN5A |
| CLNDBN | Dilated cardiomyopathy 1E Congenital long QT syndrome not provided Primary dilated cardiomyopathy Brugada syndrome |
| Reversed | 1 |
| HGVS | NC_000003.11:g.38655272C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000032639.6, RCV000058833.3, RCV000182941.3, RCV000211852.1, RCV000464847.1, |
[PMID 19214780] In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).
[PMID 19412328] Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.
[PMID 19716085] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
[PMID 20129283] An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
