Variant Details for SCNN1D
Basic Information Top
| Gene Symbol: | SCNN1D ( ENaCd,ENaCdelta,MGC149710,MGC149711,SCNED,dNaCh ) |
|---|---|
| Gene Full Name: | sodium channel, nonvoltage-gated 1, delta |
| Band: | 1p36.33 |
| Quick Links | Entrez ID:6339; OMIM: 601328; Uniprot ID:SCNND_HUMAN; ENSEMBL ID: ENSG00000162572; HGNC ID: 10601 |
| 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 | 7 | 2 | 0 | 0 | 0 | 0 | 9 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000126 | 1 | 1p36 | 996262 | 2996265 | 2000003 | loss | external link | Jacquemont, 2006 |
| AutCNV0000443 | 1 | 1p36.32-36.33 | 1026808 | 3706053 | 2679245 | loss | external link | Gregory, 2009 |
| AutCNV0000442 | 1 | 1p36.32-36.33 | 869049 | 3706053 | 2837004 | gain | external link | Gregory, 2009 |
| AutCNV0000441 | 1 | 1p36.32-36.33 | 10001 | 3706053 | 3696052 | loss | external link | Gregory, 2009 |
| AutCNV0000347 | 1 | 1p36.33 | Zwaag, 2009 | |||||
| AutCNV0000346 | 1 | 1p36.33 | Zwaag, 2009 | |||||
| AutCNV0003119 | 1 | 1p36.32-36.33 | 10002 | 5170712 | 5160710 | loss | external link | Gai, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 1222518 | C | A | PCR or Sanger sequencing | Iossifov I, 2014 | ||||
| 1 | 1225729 | G | A | PCR or Sanger sequencing | neutral | 0.0824 | Iossifov I, 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! | |||||||