{{Rsnum
|rsid=121918622
|Chromosome=2
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=SCN1A
|position=165992332
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=LOC102724058,LOC102724067,SCN1A
}}{{omim
|id=182389
|rsnum=121918622
|variant=0001
}}
{{omim
|id=607208
|rsnum=121918622
}}{{ClinVar
|rsid=121918622
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=166848842
|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.166848842C>T
|CLNSRC=OMIM Allelic Variant; UniProtKB (variants)
|CLNORIGIN=1
|CLNSRCID=182389.0001; VAR_010111
|CLNSIG=5
|CLNCUI=C1858673
|CLNDBN=Generalized epilepsy with febrile seizures plus, type 2; Severe myoclonic epilepsy in infancy
|Disease=Generalized epilepsy with febrile seizures plus; Severe myoclonic epilepsy in infancy
|CLNACC=RCV000013742.23; RCV000059521.1
|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:C0751122:607208:33069:230437002
}}{{PMID|20522430}} Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.