Variant Details for WHAMML2
Basic Information Top
Gene Symbol: | WHAMML2 ( FLJ33935,WHDC1L2 ) |
---|---|
Gene Full Name: | WAS protein homolog associated with actin, golgi membranes and microtubules-like 2 (pseudogene) |
Band: | 15q13.1 |
Quick Links | Entrez ID:440253; OMIM: NA; Uniprot ID:; ENSEMBL ID: ; HGNC ID: |
Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic Top
Click 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 | 24 | 0 | 0 | 0 | 0 | 1 | 25 |
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 | ||||
AutCNV0000298 | 15 | 15q11-12 | 25257404 | 29097694 | 3840290 | gain | external link | Mann, 2004 |
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 |
AutCNV0000010 | 15 | 15q11-13.33 | 20266957 | 32969479 | 12702522 | gain | external link | Sebat, 2007 |
AutCNV0000279 | 15 | 15q11.2-13 | gain | Wassink, 2007 | ||||
AutCNV0000268 | 15 | 15q11-13 | 25257428 | 33573585 | 8316157 | gain | external link | Kwasnicka-Crawford, 2007 |
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 | ||||
AutCNV0000424 | 15 | 15q13.1 | 28999241 | 32414903 | 3415662 | loss | external link | Gregory, 2009 |
AutCNV0000676 | 15 | 15q11-13 | gain | Bremer, 2009 | ||||
AutCNV0000589 | 15 | 15q13.1 | 28130451 | 29313054 | 1182603 | gain | external link | Gregory, 2009 |
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 |
NGS de novo Mutations Top
iFish (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 |
---|---|---|---|---|---|---|---|---|---|
No related data! |
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 |
---|---|---|---|---|---|---|---|
AutLD0000155 | 15q13.1-q14 | 15 | rs8033248 | 4.09 | - | - | Allen-Brady, 2010 |