Variant Details for APBA2
Basic Information Top
| Gene Symbol: | APBA2 ( D15S1518E,HsT16821,LIN-10,MGC99508,MGC:14091,MINT2,X11L ) |
|---|---|
| Gene Full Name: | amyloid beta (A4) precursor protein-binding, family A, member 2 |
| Band: | 15q13.1 |
| Quick Links | Entrez ID:321; OMIM: 602712; Uniprot ID:APBA2_HUMAN; ENSEMBL ID: ENSG00000034053; HGNC ID: 579 |
| 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 | 27 | 1 | 0 | 0 | 1 | 1 | 30 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000284 | 15 | 15q11-13 | gain | Wolpert, 2000 | ||||
| AutCNV0000273 | 15 | 15q11.2-13 | gain | Wassink, 2001 | ||||
| AutCNV0000272 | 15 | 15q11.2-13 | loss | Wassink, 2001 | ||||
| AutCNV0000258 | 15 | 15q11-13 | gain | Silva, 2002 | ||||
| AutCNV0000290 | 15 | 15q11-13 | gain | Keller, 2003 | ||||
| AutCNV0000297 | 15 | 15q11-12 | 25257404 | 29789038 | 4531634 | gain | external link | Mann, 2004 |
| AutCNV0000280 | 15 | 15q11-13 | 26434396 | 30162567 | 3728171 | gain | external link | Bolton, 2004 |
| AutCNV0000287 | 15 | 15p11-q13 | 20330217 | 32990417 | 12660200 | gain | external link | Sahoo, 2005 |
| AutCNV0000133 | 15 | 15q11-13 | 25184942 | 31748742 | 6563800 | gain | external link | Jacquemont, 2006 |
| AutCNV0000279 | 15 | 15q11.2-13 | gain | Wassink, 2007 | ||||
| AutCNV0000010 | 15 | 15q11-13.33 | 20266957 | 32969479 | 12702522 | gain | external link | Sebat, 2007 |
| AutCNV0000268 | 15 | 15q11-13 | 25257428 | 33573585 | 8316157 | gain | external link | Kwasnicka-Crawford, 2007 |
| AutCNV0000228 | 15 | 15q13.1 | 29212398 | 29501181 | 288783 | gain | external link | Christian, 2008 |
| AutCNV0000181 | 15 | 15q11.2-q13.3 | 20116186 | 32511508 | 12395322 | gain | external link | Marshall, 2008 |
| AutCNV0000149 | 15 | 15q11.2-13.3 | 20167086 | 32511555 | 12344469 | gain | external link | Marshall, 2008 |
| AutCNV0000148 | 15 | 15q11.2-13.3 | 20116186 | 32511508 | 12395322 | gain | external link | Marshall, 2008 |
| AutCNV0000016 | 15 | 15q11-13 | gain | Weiss, 2008 | ||||
| AutCNV0000589 | 15 | 15q13.1 | 28130451 | 29313054 | 1182603 | gain | external link | Gregory, 2009 |
| AutCNV0000424 | 15 | 15q13.1 | 28999241 | 32414903 | 3415662 | loss | external link | Gregory, 2009 |
| AutCNV0000676 | 15 | 15q11-13 | gain | Bremer, 2009 | ||||
| AutCNV0000953 | 15 | 15q13.1-13.2 | 29088774 | 30369914 | 1281140 | gain | external link | Pinto, 2010 |
| AutCNV0000844 | 15 | 15q13.1-13.3 | 28963100 | 32648871 | 3685771 | loss | external link | Pinto, 2010 |
| AutCNV0004313 | 15 | 15q11.2-q13.3 | 20266957 | 32969479 | 12702522 | gain | external link | Sanders, 2011 |
| AutCNV0004312 | 15 | 15q11.2-q13.3 | 20167086 | 32511555 | 12344469 | gain | external link | Sanders, 2011 |
| AutCNV0004311 | 15 | 15q11.1-q13.3 | 20116186 | 32511508 | 12395322 | gain | external link | Sanders, 2011 |
| AutCNV0003714 | 15 | 15q13.1 | 29360401 | 29450276 | 89875 | gain | external link | Gai, 2011 |