{{Rsnum
|rsid=6791924
|Gene=SCN5A
|Chromosome=3
|position=38633208
|Orientation=plus
|GMAF=0.02663
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=SCN5A
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 0.0 | 100.0
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 12.9 | 87.1
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{PharmGKB
|RSID=rs6791924
|Name_s=SCN5A:R34C
|Gene_s=SCN5A
|Feature=Exon/NonSyn
|Evidence=Web Resource:http://www.pharmgkb.org/search/annotatedGene/scn5a/variant.jsp
|Annotation=Has been studied in association with long QT.
|Drugs=
|Drug Classes=
|Diseases=Long QT Syndrome
|Curation Level=In-Depth
|PharmGKB Accession ID=PA161145162
}}

{{ClinVar
|rsid=6791924
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=38674699
|CHROM=3
|GMAF=0.0266
|dbSNPBuildID=116
|SSR=0
|SAO=1
|VP=0x050178000000150517100100
|GENEINFO=SCN5A:6331
|GENE_NAME=SCN5A
|GENE_ID=6331
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000003.11:g.38674699G>A
|CLNORIGIN=1
|CLNSIG=2
|Tags=PM;TPA;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD
|CAF=0.9734; 0.02663
|CLNACC=RCV000041594.1; RCV000058380.1
|CLNDBN=AllHighlyPenetrant; not provided
|CLNDSDB=MedGen
|CLNDSDBID=CN169374
|COMMON=1
|Disease=AllHighlyPenetrant; not provided
}}

{{PMID Auto
|PMID=19214780
|Title=In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).
|OA=1
}}

{{PMID Auto
|PMID=11997281
|Title=Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes.
}}

{{PMID Auto
|PMID=17161064
|Title=Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes.
}}

{{PMID Auto
|PMID=17675083
|Title=Novel mutation in the SCN5A gene associated with arrhythmic storm development during acute myocardial infarction.
|OA=1
}}

{{PMID Auto
|PMID=17993325
|Title=Genetic predisposition and cellular basis for ischemia-induced ST-segment changes and arrhythmias.
|OA=1
}}

{{PMID Auto
|PMID=19841300
|Title=Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.
|OA=1
}}

{{GET Evidence
|gene=SCN5A
|aa_change=Arg34Cys
|aa_change_short=R34C
|impact=benign
|qualified_impact=Insufficiently evaluated benign
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs6791924
|overall_frequency_n=305
|overall_frequency_d=9958
|overall_frequency=0.0306286
|n_genomes=6
|n_genomes_annotated=0
|n_haplomes=6
|n_articles=4
|n_articles_annotated=4
|qualityscore_in_silico=4
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|in_pharmgkb=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=8
|autoscore=5
|webscore=N
|n_web_uneval=10
|summary_short=SNC5A is the cardiac sodium channel gene.  Mutations in this gene have been associated with idiopathic ventricular fibrillation and Burgunda Syndrome, however, the R34C mutation of the gene has been largely identified as benign with no noticeable phenotypic effect.  Although this gene is associated with acquired Long-QT syndrome (alQTS) Yang et al. found no difference in the frequency of this variant in alQTS patients and controls (3% versus 3%). AFFECT PROTEIN FUNCTION 
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}