Variant Details for NLGN1
Basic Information Top
| Gene Symbol: | NLGN1 ( KIAA1070,MGC45115,NL1 ) |
|---|---|
| Gene Full Name: | neuroligin 1 |
| Band: | 3q26.31 |
| Quick Links | Entrez ID:22871; OMIM: 600568; Uniprot ID:NLGN1_HUMAN; ENSEMBL ID: ENSG00000169760; HGNC ID: 14291 |
| 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 | 5 | 0 | 0 | 0 | 1 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000310 | 3 | 3q26.31 | 173271684 | 173289281 | 17597 | gain | external link | Glessner, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 3 | 173999004 | C | Y | Sanger sequencing | O'Roak BJ, 2012 | ||||
| 3 | 173240607 | G | A | Sequenom | Michaelson JJ, 2012 | ||||
| 3 | 173587491 | G | A | Sanger and Sequenom | Michaelson JJ, 2012 | ||||
| 3 | 173687596 | C | T | Sanger | Michaelson JJ, 2012 | ||||
| 3 | 173996749 | G | A | p.V320I | Y | Yuen RK, 2015 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000144 | 3q26.31-27.3 | 3 | - | - | 4.85 | - | Allen-Brady, 2008 |