Variant Details for ACAD10
Basic Information Top
| Gene Symbol: | ACAD10 ( MGC5601 ) |
|---|---|
| Gene Full Name: | acyl-CoA dehydrogenase family, member 10 |
| Band: | 12q24.12 |
| Quick Links | Entrez ID:80724; OMIM: 611181; Uniprot ID:ACD10_HUMAN; ENSEMBL ID: ENSG00000111271; HGNC ID: 21597 |
| 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 | 2 | 0 | 0 | 0 | 0 | 8 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000102 | 12 | 12q12-24.33 | 46092533 | 132022120 | 85929587 | gain | external link | Szatmari, 2007 |
| AutCNV0002034 | 12 | 12q24.12 | 112181078 | 112315172 | 134094 | gain | external link | Pinto, 2010 |
| AutCNV0001312 | 12 | 12q24.12-24.13 | 112181078 | 112317096 | 136018 | gain | external link | Pinto, 2010 |
| AutCNV0002807 | 12 | 12q24.12 | 112182245 | 112315172 | 132927 | gain | external link | Pinto, 2010 |
| AutCNV0002806 | 12 | 12q24.12 | 112181078 | 112315172 | 134094 | gain | external link | Pinto, 2010 |
| AutCNV0002805 | 12 | 12q24.12 | 112181078 | 112315172 | 134094 | gain | external link | Pinto, 2010 |
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 | 112187030 | G | T | Sanger sequencing | deleterious | 0.5747 | De Rubeis S, 2014 | ||
| 12 | 112187030 | G | T | PCR or Sanger sequencing | deleterious | 0.5747 | 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! | |||||||