Variant Details for ACACA
Basic Information Top
| Gene Symbol: | ACACA ( ACAC,ACC,ACC1,ACCA ) |
|---|---|
| Gene Full Name: | acetyl-CoA carboxylase alpha |
| Band: | 17q12 |
| Quick Links | Entrez ID:31; OMIM: 200350; Uniprot ID:ACACA_HUMAN; ENSEMBL ID: ENSG00000132142; HGNC ID: 84 |
| 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 | 2 | 0 | 0 | 1 | 0 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0004360 | 17 | 17q12 | 34815551 | 36263019 | 1447468 | loss | external link | Sanders, 2011 |
| AutCNV0003857 | 17 | 17q12 | 34734524 | 36221700 | 1487176 | loss | external link | Levy, 2011 |
| AutCNV0004673 | 17 | 17q12 | 34464879 | 36352140 | 1887261 | loss | external link | Roberts JL, 2014 |
| AutCNV0005118 | 16 | 16p13.3 | 7757373 | 7776124 | 18751 | gain | external link | Kanduri C, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 17 | 35457118 | C | T | Sanger and Sequenom | Michaelson JJ, 2012 | ||||
| 17 | 35487135 | G | A | c.5689C>T | p.Arg1897Trp | Sanger sequencing | neutral | 0.3605 | Takata A, 2018 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| Chr17 | 35564585 | p.Phe1242Leufs*11 | Y | Coe BP, 2014 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||