| Variant ID | 3801 |
|---|---|
| Entrez Gene ID | 6326 |
| Gene | SCN2A (GeneCards) |
| Location | hg19 2:166311903-166311903
hg38 2:165455393-165455393 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.166311903 A>C (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1912 |
| CADD Raw score (version 1.3) | -0.355806 (Deleterious) |
| FATHMM raw prediction score | 0.08987 (Tolerated) |
| Deleterious probability by DeFine | 0.2681 (Neutral) |
| Entrez Gene ID | 6326 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SCN2A (GeneCards) |
| Number of variants in SCN2A in this database | 11 (view all the variants) |
| Full name | sodium voltage-gated channel alpha subunit 2 |
| Band | 2q24.3 |
| Other IDs | Vega: OTTHUMG00000044172 OMIM: 182390 HGNC: HGNC:10588 Ensembl: ENSG00000136531 |
| Other names | HBA, NAC2, BFIC3, BFIS3, BFNIS, HBSCI, EIEE11, HBSCII, Nav1.2, SCN2A1, SCN2A2, Na(v)1.2 |
| Summary | Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels function in the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016] |
| Individual ID | 29217584.12 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |