{{Rsnum
|rsid=137854600
|Chromosome=3
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=SCN5A
|position=38551504
|Gene_s=SCN5A
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=600163
|variant=0007
|rsnum=137854600
}}{{ClinVar
|rsid=137854600
|Reversed=1
|FwdREF=G
|FwdALT=A,T
|REF=C
|ALT=A,T
|RSPOS=38592995
|CHROM=3
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=SCN5A:6331
|GENE_NAME=SCN5A
|GENE_ID=6331
|WGT=0
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000003.11:g.38592995C>A; NC_000003.11:g.38592995C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=600163.0007
|CLNSIG=5
|CLNCUI=C1859062
|CLNDBN=not provided; Long QT syndrome 3; Long QT syndrome 3/6, digenic
|Disease=not provided; Long QT syndrome 3; Long QT syndrome 3/6
|CLNACC=RCV000058717.1; RCV000009970.3; RCV000009971.1; RCV000058716.1
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1129:C1859062:603830:101016
}}{{PMID Auto
|PMID=1505163
|Title=The creatine kinase system in the serum of runners following a doubling of training mileage.
}}

{{PMID Auto
|PMID=9495298
|Title=Phenotypic characterization of a novel long-QT syndrome mutation (R1623Q) in the cardiac sodium channel.
}}

{{PMID Auto
|PMID=9506831
|Title=A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome.
}}

{{PMID Auto
|PMID=10200053
|Title=A de novo missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic long QT sydrome. Mutations in brief no. 140. Online.
}}

{{PMID Auto
|PMID=10973849
|Title=Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
}}

{{PMID Auto
|PMID=12574983
|Title=Congenital long QT syndrome and 2:1 atrioventricular block with a mutation of the SCN5A gene.
}}

{{PMID Auto
|PMID=15840476
|Title=Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
}}

{{PMID Auto
|PMID=19716085
|Title=Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
|OA=1
}}