{{Rsnum
|rsid=397514458
|Chromosome=2
|Orientation=minus
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene=SCN1A
|position=165992269
|Gene_s=SCN1A
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=2
|CLNACC=RCV000022764.16
|CLNALLE=1
|CLNDBN=Severe myoclonic epilepsy in infancy
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1318:C0751122:607208:33069:230437002
|CLNHGVS=NC_000002.11:g.166848779G>T
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=182389.0023
|Disease=Severe myoclonic epilepsy in infancy
|FwdALT=A
|FwdREF=C
|GENEINFO=SCN1A:6323
|GENE_ID=6323
|GENE_NAME=SCN1A
|REF=G
|RSPOS=166848779
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=397514458
}}