rs28937318
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 4 | Brugada syndrome 1 |
| (A;G) | 3 | Brugada syndrome 1 |
| (C;C) | 0 | |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 38606709 |
| Gene | SCN5A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28937318 |
| dbSNP (classic) | rs28937318 |
| ClinGen | rs28937318 |
| ebi | rs28937318 |
| HLI | rs28937318 |
| Exac | rs28937318 |
| Gnomad | rs28937318 |
| Varsome | rs28937318 |
| LitVar | rs28937318 |
| Map | rs28937318 |
| PheGenI | rs28937318 |
| Biobank | rs28937318 |
| 1000 genomes | rs28937318 |
| hgdp | rs28937318 |
| ensembl | rs28937318 |
| geneview | rs28937318 |
| scholar | rs28937318 |
| rs28937318 | |
| pharmgkb | rs28937318 |
| gwascentral | rs28937318 |
| openSNP | rs28937318 |
| 23andMe | rs28937318 |
| SNPshot | rs28937318 |
| SNPdbe | rs28937318 |
| MSV3d | rs28937318 |
| GWAS Ctlg | rs28937318 |
| Max Magnitude | 4 |
rs28937318, also known as Arg367His or R367H, is a SNP in the cardiac sodium channel SCN5A gene.
The [[rs28937318](A) allele was reported to be associated with sudden infant death syndrome, but as reported in OMIM, this appears to be Brugada syndrome 1.OMIM
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 | Rs28937318(A;A) rs28937318(T;T) |
| Alt | Rs28937318(A;A) rs28937318(T;T) |
| Reference | Rs28937318(G;G) |
| Significance | Pathogenic |
| Disease | Brugada syndrome Brugada syndrome 1 |
| Variation | info |
| Gene | SCN5A |
| CLNDBN | Brugada syndrome Brugada syndrome 1 |
| Reversed | 1 |
| HGVS | NC_000003.11:g.38648200C>A; NC_000003.11:g.38648200C>T |
| CLNSRC | UniProtKB (protein) OMIM Allelic Variant |
| CLNACC | RCV000058391.2, RCV000009988.5, RCV000058390.2, |
[PMID 19214780] In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).
[PMID 20129283] An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
[PMID 11823453] Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome.
[PMID 14687250] A cardiac sodium channel mutation identified in Brugada syndrome associated with atrial standstill.
[PMID 15028074] Phenotypic characterization of a large European family with Brugada syndrome displaying a sudden unexpected death syndrome mutation in SCN5A:.
[PMID 19251209] Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.
