| Variant ID | 30176 |
|---|---|
| Entrez Gene ID | 6334 |
| Gene | SCN8A (GeneCards) |
| Location | hg19 12:52180374-52180374
hg38 12:51786590-51786590 |
| Disease | Developmental and epileptic encephalopathy (view all the variants in this disease) |
| Method | smMIP |
| Mutation(HGVS format) | NC_000012.11:g.52180374 C>G (Genome Assembly: hg19) |
| Exon or Intron | NA |
|---|---|
| Position in protein | 1331 |
| Amino acid changes in protein | L > V |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.6406 |
| CADD Raw score (version 1.3) | 4.999088 (Deleterious) |
| FATHMM raw prediction score | 0.9122 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.81 (Deleterious) |
| PROVEAN score | -2.79 (Deleterious) |
| MetaSVM score | 1.018 (Deleterious) |
| MetaLR score | 0.952 (Deleterious) |
| MCAP score | 0.844 (Deleterious) |
| FitCons score | 0.661 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.31 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.332 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 6.656 |
| Deleterious probability by iFish2 | 0.6089 (Deleterious) |
| Deleterious probability by DeFine | 0.8681 (Deleterious) |
| Entrez Gene ID | 6334 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SCN8A (GeneCards) |
| Number of variants in SCN8A in this database | 3 (view all the variants) |
| Full name | sodium voltage-gated channel alpha subunit 8 |
| Band | 12q13.13 |
| Other IDs | Vega: OTTHUMG00000169490 OMIM: 600702 HGNC: HGNC:10596 Ensembl: ENSG00000196876 |
| Other names | MED, PN4, CIAT, BFIS5, NaCh6, CERIII, EIEE13, Nav1.6 |
| Summary | This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with cognitive disability, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010] |
| Individual ID | 29694806.04 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29694806 |
| Whose mosaic mutation | Father |
| Phenotype | 2 |
| Number of affected children | 2 |
| Disease | Developmental and epileptic encephalopathy (view all the variants in this disease) |
| OMIM ID | 614558 |
| Pubmed ID | 29694806 |
|---|---|
| Title | Parental Mosaicism in De Novo Epileptic Encephalopathies |
| Journal | The New England journal of medicine |
| Publication date | 2018.04 |
| Disease | Epileptic Encephalopathies |
| Number of cases | Male cases: 6; Female cases: 4; cases of unknown sex: 2; |