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rs28937318

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 4 Brugada syndrome 1
(A;G) 3 Brugada syndrome 1
(C;C) 0
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome3
Position38606709
GeneSCN5A
is asnp
is mentioned by
dbSNPrs28937318
ebirs28937318
HLIrs28937318
Exacrs28937318
Varsomers28937318
Maprs28937318
PheGenIrs28937318
hapmaprs28937318
1000 genomesrs28937318
hgdprs28937318
ensemblrs28937318
gopubmedrs28937318
geneviewrs28937318
scholarrs28937318
googlers28937318
pharmgkbrs28937318
gwascentralrs28937318
openSNPrs28937318
23andMers28937318
23andMe allrs28937318
SNP Nexus

SNPshotrs28937318
SNPdbers28937318
MSV3drs28937318
GWAS Ctlgrs28937318
Max Magnitude4

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 23788249OA-icon.png]

OMIM600163
DescBRUGADA SYNDROME
Variant0021
Relatedalso


ClinVar
Risk rs28937318(A,T;A,T)
Alt rs28937318(A,T;A,T)
Reference rs28937318(G;G)
Significance Pathogenic
Disease Brugada syndrome Brugada syndrome 1 not provided
Variation info
Gene SCN5A
CLNDBN Brugada syndrome Brugada syndrome 1 not provided
Reversed 1
HGVS NC_000003.11:g.38648200C>A; NC_000003.11:g.38648200C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000058391.2, RCV000009988.4, RCV000058390.2, RCV000182958.1,



[PMID 19214780OA-icon.png] In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).


[PMID 20129283OA-icon.png] 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.