{{Rsnum
|rsid=121918623
|Chromosome=2
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=SCN1A
|position=166038098
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=SCN1A
}}{{omim
|id=182389
|rsnum=121918623
|variant=0002
}}
{{omim
|id=604233
|rsnum=121918623
}}
{{omim
|id=607208
|rsnum=121918623
}}{{ClinVar
|rsid=121918623
|Reversed=1
|FwdREF=C
|FwdALT=A,T
|REF=G
|ALT=A,T
|RSPOS=166894608
|CHROM=2
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=SCN1A:6323
|GENE_NAME=SCN1A
|GENE_ID=6323
|WGT=0
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000002.11:g.166894608G>A; NC_000002.11:g.166894608G>T
|CLNSRC=OMIM Allelic Variant; UniProtKB (variants)
|CLNORIGIN=1
|CLNSRCID=182389.0002; VAR_010110; VAR_064247
|CLNSIG=5
|CLNCUI=C1858673
|CLNDBN=Generalized epilepsy with febrile seizures plus, type 2; Generalized epilepsy with febrile seizures plus, type 1; Severe myoclonic epilepsy in infancy
|Disease=Generalized epilepsy with febrile seizures plus; Generalized epilepsy with febrile seizures plus; Severe myoclonic epilepsy in infancy
|CLNACC=RCV000013743.23; RCV000059471.1; RCV000059470.1
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1318:C1858673:604403:36387; NBK1318:C1858672:604233:36387; NBK1318:C0751122:607208:33069:230437002
}}{{PMID Auto
|PMID=20522430
|Title=Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.
}}

{{PMID Auto
|PMID=10742094
|Title=Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.
}}