Variant Details for SLC6A1
Basic Information Top
| Gene Symbol: | SLC6A1 ( GABATHG,GABATR,GAT1 ) |
|---|---|
| Gene Full Name: | solute carrier family 6 (neurotransmitter transporter, GABA), member 1 |
| Band: | 3p25.3 |
| Quick Links | Entrez ID:6529; OMIM: 137165; Uniprot ID:SC6A1_HUMAN; ENSEMBL ID: ENSG00000157103; HGNC ID: 11042 |
| 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 | 9 | 0 | 0 | 0 | 3 | 12 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 3 | 11067472 | C | T | p.Ala288Val | Sanger sequencing | deleterious | 0.998 | Sanders SJ, 2012 | |
| 3 | 11068045 | G | A | Sanger sequencing | deleterious | 0.9997 | De Rubeis S, 2014 | ||
| 3 | 11076337 | G | A | c.1648G>A | p.Gly550Arg | PCR and Sanger sequencing | deleterious | 0.9875 | O'Roak BJ, 2014 |
| 3 | 11067982 | T | C | c.1015T>C | p.Phe339Leu | PCR and Sanger sequencing | deleterious | 0.9973 | O'Roak BJ, 2014 |
| 3 | 11067982 | T | C | Sanger sequencing | deleterious | 0.9973 | Yuen RK, 2016 | ||
| 3 | 11067143 | A | c.723C>A | p.Tyr241Ter | Stessman HA, 2017 | ||||
| 3 | 11067142 | C | A | HiSeq X and Sanger | C Yuen RK, 2017 | ||||
| 3 | 11067142 | C | A | HiSeq X and Sanger | C Yuen RK, 2017 | ||||
| 0 | c.1352A>G | p.Asp451Gly | Bowling KM, 2017 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000120 | 3p25.3 | 3 | D3S3680 | 1.51 | - | - | Shao, 2002 |
| AutLD0000001 | 3p25.3 | 3 | D3S3691 | 1.76 | - | - | McCauley, 2005 |
| AutLD0000128 | 3p25.3 | 3 | D3S3594 | - | - | 0.00007 | Lauritsen, 2006 |