Variant Details for KCNT2
Basic Information Top
| Gene Symbol: | KCNT2 ( KCa4.2,MGC119610,MGC119611,MGC119612,MGC119613,SLICK,SLO2.1 ) |
|---|---|
| Gene Full Name: | potassium channel, subfamily T, member 2 |
| Band: | 1q31.3 |
| Quick Links | Entrez ID:343450; OMIM: 610044; Uniprot ID:KCNT2_HUMAN; ENSEMBL ID: ENSG00000162687; HGNC ID: 18866 |
| 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 | 1 | 3 | 0 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000463 | 1 | 1q31.3 | 196378252 | 197060894 | 682642 | loss | external link | Gregory, 2009 |
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 | 196395019 | C | G | Sanger sequencing | deleterious | 0.9714 | De Rubeis S, 2014 | ||
| 1 | 196397281 | A | G | PCR or Sanger sequencing | deleterious | 0.9613 | Iossifov I, 2014 | ||
| 1 | 196395019 | C | G | c.1084GGT>CGT | p.362G>R | deleterious | 0.9714 | 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! | |||||||