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rs45546039

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 5 associated with cardiomyopathy and arrhythmias
(A;G) 4 associated with cardiomyopathy and arrhythmias
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome3
Position38613781
GeneSCN5A
is asnp
is mentioned by
dbSNPrs45546039
ebirs45546039
HLIrs45546039
Exacrs45546039
Varsomers45546039
Maprs45546039
PheGenIrs45546039
hapmaprs45546039
1000 genomesrs45546039
hgdprs45546039
ensemblrs45546039
gopubmedrs45546039
geneviewrs45546039
scholarrs45546039
googlers45546039
pharmgkbrs45546039
gwascentralrs45546039
openSNPrs45546039
23andMers45546039
23andMe allrs45546039
SNP Nexus

SNPshotrs45546039
SNPdbers45546039
MSV3drs45546039
GWAS Ctlgrs45546039
Max Magnitude5

rs45546039, also known as 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 23788249OA-icon.png]


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
Variation info
Gene SCN5A
CLNDBN Dilated cardiomyopathy 1E Congenital long QT syndrome not provided Primary dilated cardiomyopathy
Reversed 1
HGVS NC_000003.11:g.38655272C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032639.5, RCV000058833.2, RCV000182941.2, RCV000211852.1,



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


[PMID 19412328OA-icon.png] Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.


[PMID 19716085OA-icon.png] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.


[PMID 20129283OA-icon.png] An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.