Variant ID 30229
Entrez Gene ID 6323
Gene SCN1A (GeneCards)
Location hg19 2:166866352-166866352
hg38 2:166009842-166009842
Disease Asymptomatic
Method DDPCR
Mutation(HGVS format) NC_000002.11:g.166866352_166866352 del (Genome Assembly: hg19)

Other information

Exon or Intron Intron
Exon nc -1
Position in protein NA
Amino acid changes in protein NA > NA
Position in cDNA 3880
Changes in cDNA G > NA
Indel delG
mRNA accession NM_001165963.1
mRNA length NA
Reference length 243199373

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
Deleterious probability by DeFine 0.9504 (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 29460957.10 (view all the variants in this individual)
Pubmed ID 29460957
Whose mosaic mutation Male Patient  
Origin of mosaic mutation in patients de novo
Phenotype 1  
Disease Asymptomatic

Publication #1: 29460957

Pubmed ID 29460957
Title Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes
Journal Epilepsia
Publication date 2018.01
Disease SCN1A related epileptic encephalopathy
Number of cases Male cases: 7; Female cases: 3;