Variant ID 455
Entrez Gene ID 6323
Gene SCN1A (GeneCards)
Location hg19 2:166848545-166848545
hg38 2:165992035-165992035
Disease Dravet syndrome (view all the variants in this disease)
Method RFLP
Mutation(HGVS format) NC_000002.11:g.166848545_166848545 ins TT (Genome Assembly: hg19)

Other information

Exon or Intron NA
Position in protein NA
Amino acid changes in protein NA > NA
Position in cDNA 5240
Changes in cDNA NA > NA
Indel insAA
mRNA accession NM_001202435.1
mRNA length 6030
Reference length 243199373

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
Deleterious probability by DeFine 0.9571 (Deleterious)
Entrez Gene ID 6323 (NCBI Gene)
Official Gene Symbol SCN1A (GeneCards)
Number of variants in SCN1A in this database 187 (view all the variants)
Full name sodium voltage-gated channel alpha subunit 1
Band 2q24.3
Other IDs Vega: OTTHUMG00000044173
OMIM: 182389
HGNC: HGNC:10585
Ensembl: ENSG00000144285
Other names FEB3, FHM3, NAC1, SCN1, SMEI, EIEE6, FEB3A, HBSCI, GEFSP2, Nav1.1
Summary Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each sodium channel is composed of a large pore-forming, glycosylated alpha subunit and two smaller beta subunits. This gene encodes a sodium channel alpha subunit, which has four homologous domains, each of which contains six transmembrane regions. Allelic variants of this gene are associated with generalized epilepsy with febrile seizures and epileptic encephalopathy. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript. [provided by RefSeq, Oct 2015]

Individual #1

Individual ID 16430863.01 (view all the variants in this individual)
Pubmed ID 16430863
Whose mosaic mutation Mother  
Phenotype 3  
Number of affected children 2 ( male: 2; )
Disease Dravet syndrome (view all the variants in this disease)
OMIM ID 607208

Publication #1: 16430863

Pubmed ID 16430863
Title Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy
Journal Biochem Biophys Res Commun
Publication date 2006.03
Disease Dravet syndrome
Number of cases Female cases: 2;