Variant ID 30208
Entrez Gene ID 6323
Gene SCN1A (GeneCards)
Location hg19 2:166852531-166852531
hg38 2:165996021-165996021
Disease EIEE6 (view all the variants in this disease)
Method Raindance Emulsion PCR
Mutation(HGVS format) NC_000002.11:g.166852531 C>T (Genome Assembly: hg19)

Other information

Exon or Intron NA
Position in protein 1525
Amino acid changes in protein R > *
Position in cDNA 4573
Changes in cDNA C > T
mRNA accession NA
mRNA length NA
Reference length 243199373

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
Variant IDs in COSMIC (version 89) 4724013
Variant occurences in COSMIC 1(large_intestine)
EIGEN score 1.6753
CADD Raw score (version 1.3) 1.372055 (Deleterious)
FATHMM raw prediction score 0.98409 (Tolerated)
Deleterious probability by DeFine 0.8665 (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 28837158.21 (view all the variants in this individual)
Pubmed ID 28837158
Whose mosaic mutation Male Patient  
Origin of mosaic mutation in patients de novo
Phenotype 3  
Disease EIEE6 (view all the variants in this disease)
OMIM ID 607208

Publication #1: 28837158

Pubmed ID 28837158
Title High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders
Journal Genetics in Medicine
Publication date 2017.08
Disease Epilepsy related neurodevelopmental disorder
Number of cases Male cases: 22; Female cases: 9;