Variant Details for SCNN1G
Basic Information Top
| Gene Symbol: | SCNN1G ( BESC3,ENaCg,ENaCgamma,PHA1,SCNEG ) |
|---|---|
| Gene Full Name: | sodium channel, nonvoltage-gated 1, gamma |
| Band: | 16p12.2 |
| Quick Links | Entrez ID:6340; OMIM: 600761; Uniprot ID:SCNNG_HUMAN; ENSEMBL ID: ENSG00000166828; HGNC ID: 10602 |
| 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 | 2 | 0 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0004827 | 16 | 16p12.2p11.2 | 21516366 | 28234120 | 6717754 | gain | external link | Okamoto N, 2014 |
| AutCNV0004826 | 16 | 16p12.2p11.2 | 21306156 | 29053253 | 7747097 | loss | external link | Okamoto N, 2014 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 16 | 23224460 | G | A | Sanger sequencing | deleterious | 0.2753 | De Rubeis S, 2014 | ||
| 16 | 23224460 | G | A | c.1469CGG>CAG | p.490R>Q | deleterious | 0.2753 | Fromer M, 2014 |
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! | |||||||