Variant Details for CD163L1
Basic Information Top
| Gene Symbol: | CD163L1 ( CD163B,M160 ) |
|---|---|
| Gene Full Name: | CD163 molecule-like 1 |
| Band: | 12p13.31 |
| Quick Links | Entrez ID:283316; OMIM: 606079; Uniprot ID:C163B_HUMAN; ENSEMBL ID: ENSG00000177675; HGNC ID: 30375 |
| 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 | 1 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000363 | 12 | 12p13.31 | 5429739 | 10108733 | 4678994 | external link | Zwaag, 2009 | |
| AutCNV0003965 | 12 | 12p13.31 | 7555155 | 7738193 | 183038 | gain | external link | Levy, 2011 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 12 | 7510021 | A | AG | Sanger sequencing | De Rubeis S, 2014 | ||||
| 12 | 7551094 | T | C | Sanger sequencing | deleterious | 0.8797 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| chr12 | 7528295 | C | T | c.2686+1G>A | Y | Yuen RK, 2015 |
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! | |||||||