{{Rsnum
|rsid=121918630
|Chromosome=2
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=SCN1A
|position=165994167
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=LOC102724058,LOC102724067,SCN1A
}}{{omim
|id=182389
|rsnum=121918630
|variant=0014
}}
{{omim
|id=607208
|rsnum=121918630
}}{{ClinVar
|rsid=121918630
|Reversed=1
|FwdREF=G
|FwdALT=T
|REF=C
|ALT=A
|RSPOS=166850677
|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
|CLNHGVS=NC_000002.11:g.166850677C>A
|CLNSRC=OMIM Allelic Variant; UniProtKB (variants)
|CLNORIGIN=1
|CLNSRCID=182389.0014; VAR_029706
|CLNSIG=5
|CLNCUI=C0751122; C1858673
|CLNDBN=Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2
|Disease=Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus
|CLNACC=RCV000013756.23; RCV000013757.22
|Tags=RV;PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1318:C0751122:607208:33069:230437002; NBK1318:C1858673:604403:36387
}}{{PMID Auto
|PMID=12566275
|Title=Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.
}}