Variant Details for CHD7
Basic Information Top
| Gene Symbol: | CHD7 ( FLJ20357,FLJ20361,IS3,KAL5,KIAA1416 ) |
|---|---|
| Gene Full Name: | chromodomain helicase DNA binding protein 7 |
| Band: | 8q12.2 |
| Quick Links | Entrez ID:55636; OMIM: 608765,608892; Uniprot ID:CHD7_HUMAN; ENSEMBL ID: ENSG00000171316; HGNC ID: 20626 |
| 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 | 0 | 4 | 0 | 2 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| No related data! | ||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| 8 | 61735090 | G | R | Sanger sequencing | O'Roak BJ, 2012 | ||||
| 8 | 61769254 | ACCAGTGTCTG | A | HiSeq X and Sanger | C Yuen RK, 2017 | ||||
| 8 | 61774804 | G | A | c.7880G>A | p.Arg2627Gln | Not_tested | deleterious | 0.9801 | Takata A, 2018 |
| 0 | c.2959C>T | p.(R987*) | Trujillano D, 2017 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 8 | 61615336 | * | -T/* | p.Leu2798ArgfsX19 | O'Roak BJ, 2012 | ||||
| 8 | 61615886 | * | +A/* | p.Asp2982ArgfsX4 | O'Roak BJ, 2012 |
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! | |||||||