Variant Details for CHL1
Basic Information Top
| Gene Symbol: | CHL1 ( CALL,FLJ44930,L1CAM2,MGC132578 ) |
|---|---|
| Gene Full Name: | cell adhesion molecule with homology to L1CAM (close homolog of L1) |
| Band: | 3p26.3 |
| Quick Links | Entrez ID:10752; OMIM: 607416; Uniprot ID:CHL1_HUMAN; ENSEMBL ID: ENSG00000134121; HGNC ID: 1939 |
| 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 | 9 | 0 | 1 | 1 | 0 | 0 | 11 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0003082 | 3 | 3p26.3 | 61044 | 354290 | 293246 | gain | external link | Pinto, 2010 |
| AutCNV0002421 | 3 | 3p26.3 | 252344 | 1511108 | 1258764 | gain | external link | Pinto, 2010 |
| AutCNV0002246 | 3 | 3p26.3 | 61044 | 251004 | 189960 | gain | external link | Pinto, 2010 |
| AutCNV0001637 | 3 | 3p26.3 | 61044 | 324149 | 263105 | loss | external link | Pinto, 2010 |
| AutCNV0001014 | 3 | 3p26.3 | 337545 | 378069 | 40524 | gain | external link | Pinto, 2010 |
| AutCNV0000729 | 3 | 3p25.3-pter | 60000 | 10093676 | 10033676 | gain | external link | Bremer, 2011 |
| AutCNV0004907 | 3 | 3p26.3 | gain | Hu J, 2015 | ||||
| AutCNV0004906 | 3 | 3p26.3 | gain | Hu J, 2015 | ||||
| AutCNV0005094 | 3 | 3p26.3 | 380685 | 1067787 | 687102 | gain | external link | Li C, 2016 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 3 | 386367 | C | G | Parental Mosaic Transmitted | Krupp DR, 2017 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 3 | 582123 | T | A | Doan RN, 2016 |
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! | |||||||