Variant Details for CNST
Basic Information Top
| Gene Symbol: | CNST ( C1orf71,FLJ32001,MGC18089 ) |
|---|---|
| Gene Full Name: | consortin, connexin sorting protein |
| Band: | 1q44 |
| Quick Links | Entrez ID:163882; OMIM: 613439; Uniprot ID:CNST_HUMAN; ENSEMBL ID: ENSG00000162852; HGNC ID: 26486 |
| 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 | 3 | 2 | 0 | 0 | 0 | 1 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002356 | 1 | 1q44 | 245969638 | 247125355 | 1155717 | loss | external link | Pinto, 2010 |
| AutCNV0004198 | 1 | 1q44 | 246617914 | 248071120 | 1453206 | loss | external link | Sanders, 2011 |
| AutCNV0005694 | 1 | loss | Yuen RK, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 246754937 | G | R | Sanger sequencing | O'Roak BJ, 2012 | ||||
| 1 | 246810623 | C | T | Sanger sequencing | deleterious | 0.9785 | Yuen RK, 2016 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000046 | 1q44 | 1 | D1S1609 | 2.41 | - | - | Risch, 1999 |