Variant Details for SNTG1
Basic Information Top
| Gene Symbol: | SNTG1 ( G1SYN,SYN4 ) |
|---|---|
| Gene Full Name: | syntrophin, gamma 1 |
| Band: | 8q11.21 |
| Quick Links | Entrez ID:54212; OMIM: 608714; Uniprot ID:SNTG1_HUMAN; ENSEMBL ID: ENSG00000147481; HGNC ID: 13740 |
| 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 | 4 | 0 | 0 | 0 | 0 | 4 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 8 | 51705253 | T | A | c.1418T>A | p.Glu473Tyr | Sanger sequencing | neutral | 0.097 | Neale BM, 2012 |
| 8 | 51314822 | T | C | Sanger sequencing | neutral | 0.337 | De Rubeis S, 2014 | ||
| 8 | 51705253 | T | A | Sanger sequencing | neutral | 0.097 | De Rubeis S, 2014 | ||
| 8 | 51306875 | G | A | strong | 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! | |||||||