Variant Details for SCN1A
Basic Information Top
| Gene Symbol: | SCN1A ( FEB3,FEB3A,GEFSP2,HBSCI,NAC1,Nav1.1,SCN1,SMEI ) |
|---|---|
| Gene Full Name: | sodium channel, voltage-gated, type I, alpha subunit |
| Band: | 2q24.3 |
| Quick Links | Entrez ID:6323; OMIM: 182389; Uniprot ID:SCN1A_HUMAN; ENSEMBL ID: ENSG00000144285; HGNC ID: 10585 |
| 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 | 0 | 7 | 0 | 3 | 1 | 0 | 11 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| No related data! | ||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| 2 | 166848071 | p.Pro1894Leu | Sanger sequencing | O'Roak BJ, 2011 | |||||
| 2 | 166848071 | G | R | p.Pro1905Leu | Sanger sequencing | O'Roak BJ, 2012 | |||
| 2 | 166848006 | T | Y | p.Arg1927Gly | Sanger sequencing | O'Roak BJ, 2012 | |||
| 2 | 166848859 | C | G | Sanger sequencing | neutral | 0.2117 | De Rubeis S, 2014 | ||
| 2 | 166848294 | CTG | C | HiSeq X and Sanger | C Yuen RK, 2017 | ||||
| 2 | 167139760 | T | p.Arg1927Gly | O'Roak BJ, 2012 | |||||
| 2 | 167139825 | G | p.Pro1905Leu | O'Roak BJ, 2012 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 2 | 166872170 | A | G | Q1166R | Toma C, 2014 | ||||
| Li J, 2014 | |||||||||
| R604H | Y | Alvarez-Mora MI, 2016 |
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| Weiss, 2003 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||