Variant Details for RTN4RL1
Basic Information Top
| Gene Symbol: | RTN4RL1 ( DKFZp547J144,NGRH2,NgR3 ) |
|---|---|
| Gene Full Name: | reticulon 4 receptor-like 1 |
| Band: | 17p13.3 |
| Quick Links | Entrez ID:146760; OMIM: 610461; Uniprot ID:R4RL1_HUMAN; ENSEMBL ID: ENSG00000185924; HGNC ID: 21329 |
| 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 | 2 | 2 | 0 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000373 | 17 | 17p13.3 | 0 | 3653251 | 3653251 | external link | Zwaag, 2009 | |
| AutCNV0001346 | 17 | 17p13.3 | 1807705 | 1897820 | 90115 | loss | external link | Pinto, 2010 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 17 | 1840824 | C | T | c.292G>A | p.Gly98Ser | Sanger sequencing | deleterious | 0.6771 | Neale BM, 2012 |
| 17 | 1840824 | C | T | Sanger sequencing | deleterious | 0.6771 | De Rubeis S, 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! | |||||||