Variant Details for SCN4A
Basic Information Top
| Gene Symbol: | SCN4A ( HOKPP2,HYKPP,HYPP,NAC1A,Na(V)1.4,Nav1.4,SkM1 ) |
|---|---|
| Gene Full Name: | sodium channel, voltage-gated, type IV, alpha subunit |
| Band: | 17q23.3 |
| Quick Links | Entrez ID:6329; OMIM: 603967; Uniprot ID:SCN4A_HUMAN; ENSEMBL ID: ENSG00000007314; HGNC ID: 10591 |
| Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
| Genetic Category | CNVs/SVs | de novo Mutations | Mosaics SNVs | NGS Other Mutations | Low-Scale Gene Mutations | Linkage Regions | Total |
|---|---|---|---|---|---|---|---|
| Number | 2 | 3 | 0 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000276 | 17 | 17q23 | 57545218 | 62469538 | 4924320 | gain | external link | Wassink, 2001 |
| AutCNV0004157 | 17 | 17q23.3 | 61410337 | 62319845 | 909508 | gain | external link | Levy, 2011 |
NGS de novo Mutations TopiFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
| Chr | Pos | Ref | Alt | Coding | AA | Validated Method | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 17 | 62018938 | G | A | Sanger sequencing | De Rubeis S, 2014 | ||||
| 17 | 62029050 | C | T | PCR or Sanger sequencing | neutral | 0.0934 | Iossifov I, 2014 | ||
| 17 | 62049125 | G | A | p.Arg190Trp | Sanger | deleterious | 0.9999 | Krumm N, 2015 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| No related data! | ||||||
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||