rs28937316
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 5 | long QT syndrome |
| (A;G) | 5 | Romano-Ward Long QT Syndrome |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 38551441 |
| Gene | SCN5A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28937316 |
| dbSNP (classic) | rs28937316 |
| ClinGen | rs28937316 |
| ebi | rs28937316 |
| HLI | rs28937316 |
| Exac | rs28937316 |
| Gnomad | rs28937316 |
| Varsome | rs28937316 |
| LitVar | rs28937316 |
| Map | rs28937316 |
| PheGenI | rs28937316 |
| Biobank | rs28937316 |
| 1000 genomes | rs28937316 |
| hgdp | rs28937316 |
| ensembl | rs28937316 |
| geneview | rs28937316 |
| scholar | rs28937316 |
| rs28937316 | |
| pharmgkb | rs28937316 |
| gwascentral | rs28937316 |
| openSNP | rs28937316 |
| 23andMe | rs28937316 |
| SNPshot | rs28937316 |
| SNPdbe | rs28937316 |
| MSV3d | rs28937316 |
| GWAS Ctlg | rs28937316 |
| Max Magnitude | 5 |
rs28937316, also known as Arg1644His or R1664H, is a SNP in the cardiac sodium channel SCN5A gene on chromosome 3.
Acting in a dominant manner, one copy of a rs28937316(A) allele is considered causative for long QT syndrome 3.[PMID 8541846]
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 | Rs28937316(A;A) rs28937316(T;T) |
| Alt | Rs28937316(A;A) rs28937316(T;T) |
| Reference | Rs28937316(G;G) |
| Significance | Pathogenic |
| Disease | Long QT syndrome 3 Congenital long QT syndrome not provided Cardiovascular phenotype Brugada syndrome |
| Variation | info |
| Gene | SCN5A |
| CLNDBN | Long QT syndrome 3 Congenital long QT syndrome not provided Cardiovascular phenotype Brugada syndrome |
| Reversed | 1 |
| HGVS | NC_000003.11:g.38592932C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000009963.7, RCV000058726.3, RCV000183090.3, RCV000246905.1, RCV000472863.1, |
[PMID 19214780] In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).
[PMID 862061] [Machanisms in the prenatal development of the ovary].
[PMID 8541846] Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia.
[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
[PMID 15051636] Compound mutations: a common cause of severe long-QT syndrome.
[PMID 15840476] Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
[PMID 19841300] Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.
