Variant Details for SLC6A13
Basic Information Top
| Gene Symbol: | SLC6A13 ( GAT-2,GAT2 ) |
|---|---|
| Gene Full Name: | solute carrier family 6 (neurotransmitter transporter, GABA), member 13 |
| Band: | 12p13.33 |
| Quick Links | Entrez ID:6540; OMIM: NA; Uniprot ID:S6A13_HUMAN; ENSEMBL ID: ENSG00000010379; HGNC ID: 11046 |
| 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 |
|---|---|---|---|---|---|---|---|---|
| AutCNV0004668 | 12 | 12p13.33 | 204084 | 1685631 | 1481547 | loss | external link | Silva IM, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 12 | 332363 | G | A | c.1073C>T | p.Ala358Val | Sanger sequencing | deleterious | 0.9896 | Sanders SJ, 2012 |
| 12 | 346455 | G | A | Sanger sequencing | deleterious | 0.9947 | De Rubeis S, 2014 | ||
| 12 | 332337 | C | T | PCR or Sanger sequencing | deleterious | 0.6483 | 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! | |||||||