Variant Details for UQCRC2
Basic Information Top
| Gene Symbol: | UQCRC2 ( QCR2,UQCR2 ) |
|---|---|
| Gene Full Name: | ubiquinol-cytochrome c reductase core protein II |
| Band: | 16p12.2 |
| Quick Links | Entrez ID:7385; OMIM: 191329; Uniprot ID:QCR2_HUMAN; ENSEMBL ID: ENSG00000140740; HGNC ID: 12586 |
| 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 | 6 | 1 | 0 | 0 | 0 | 0 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000184 | 16 | 16p12.2 | 21901307 | 22703862 | 802555 | loss | external link | Marshall, 2008 |
| AutCNV0000183 | 16 | 16p12.2 | 21534304 | 22780592 | 1246288 | gain | external link | Marshall, 2008 |
| AutCNV0000793 | 16 | 16p12.1 | 21947230 | 22423698 | 476468 | loss | external link | Pinto, 2010 |
| AutCNV0000755 | 16 | 16p12.1 | 21880915 | 22443623 | 562708 | loss | external link | Pinto, 2010 |
| AutCNV0003990 | 16 | 16p12.1 | 21948467 | 22440262 | 491795 | gain | external link | Levy, 2011 |
| AutCNV0000743 | 16 | 16p12.1 | 21947230 | 22435811 | 488581 | loss | external link | Bremer, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 16 | 21987556 | A | T | PCR or Sanger sequencing | deleterious | 0.658 | Iossifov I, 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! | |||||||