Variant Details for C6orf204
Basic Information Top
| Gene Symbol: | C6orf204 ( MGC131785,NY-BR-15,bA57K17.2 ) |
|---|---|
| Gene Full Name: | chromosome 6 open reading frame 204 |
| Band: | 6q22 |
| Quick Links | Entrez ID:387119; OMIM: NA; Uniprot ID:CF204_HUMAN; ENSEMBL ID: ENSG00000111860; HGNC ID: |
| 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 | 4 | 1 | 0 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000168 | 6 | 6q22.31 | 118716318 | 119010307 | 293989 | gain | external link | Marshall, 2008 |
| AutCNV0000167 | 6 | 6q22.31 | 118692307 | 119010307 | 318000 | gain | external link | Marshall, 2008 |
| AutCNV0002612 | 6 | 6q22.31 | 118733167 | 119032179 | 299012 | gain | external link | Pinto, 2010 |
| AutCNV0003924 | 6 | 6q22.31 | 118594388 | 119132146 | 537758 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 6 | 118887070 | C | T | Sanger sequencing | 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! | |||||||