| Variant ID | 30218 |
|---|---|
| Entrez Gene ID | 6326 |
| Gene | SCN2A (GeneCards) |
| Location | hg19 2:166231223-166231223
hg38 2:165374713-165374713 |
| Disease | EIEE11 (view all the variants in this disease) |
| Method | Custom capture |
| Mutation(HGVS format) | NC_000002.11:g.166231223 T>C (Genome Assembly: hg19) |
| Exon or Intron | NA |
|---|---|
| Position in protein | 1334 |
| Amino acid changes in protein | I > T |
| Position in cDNA | 4001 |
| Changes in cDNA | T > C |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.8926 |
| CADD Raw score (version 1.3) | 5.430739 (Deleterious) |
| FATHMM raw prediction score | 0.98612 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 4.115 (Deleterious) |
| PROVEAN score | -4.76 (Deleterious) |
| MetaSVM score | 1.065 (Deleterious) |
| MetaLR score | 0.976 (Deleterious) |
| MCAP score | 0.916 (Deleterious) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.48 |
| PhyloP score based on multiple alignment of 100 vertebrates | 8.017 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.077 |
| Deleterious probability by iFish2 | 0.9977 (Deleterious) |
| Deleterious probability by DeFine | 0.923 (Deleterious) |
| 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 | 28837158.31 (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 | EIEE11 (view all the variants in this disease) |
| OMIM ID | 613721 |
| 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; |