Variant ID 246
Entrez Gene ID 6323
Gene SCN1A (GeneCards)
Location hg19 2:166901678-166901678
hg38 2:166045168-166045168
Disease Dravet syndrome (view all the variants in this disease)
Method Sanger
Mutation(HGVS format) NC_000002.11:g.166901678_166901678 del (Genome Assembly: hg19)

Other information

Exon or Intron Exon
Position in protein 513
Amino acid changes in protein E > NA
Position in cDNA 1537
Changes in cDNA NA > NA
Indel delG
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 0.9377 (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 21371021.01 (view all the variants in this individual)
Pubmed ID 21371021
Whose mosaic mutation Father  
Phenotype 2  
Disease Dravet syndrome (view all the variants in this disease)
OMIM ID 607208

Publication #1: 21371021

Pubmed ID 21371021
Title Adults with a history of possible Dravet syndrome: An illustration of the importance of analysis of the SCN1A gene
Journal Molecular Genetics and Metabolism
Publication date 2011.04
Disease Dravet syndrome
Number of cases Male cases: 1;