Variant Details for AHNAK2
Basic Information Top
| Gene Symbol: | AHNAK2 ( C14orf78,KIAA2019 ) |
|---|---|
| Gene Full Name: | AHNAK nucleoprotein 2 |
| Band: | 14q32.33 |
| Quick Links | Entrez ID:113146; OMIM: 608570; Uniprot ID:AHNK2_HUMAN; ENSEMBL ID: ENSG00000185567; HGNC ID: 20125 |
| 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 | 1 | 7 | 3 | 0 | 0 | 0 | 11 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0004660 | 14 | 105401140 | 105431289 | 30149 | gain | external link | Laplana M, 2014 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 14 | 105411605 | C | G | c.10183G>C | p.Glu3395Gln | Sanger sequencing | neutral | 0.013 | Neale BM, 2012 |
| 14 | 105410213 | C | T | Sanger sequencing | neutral | 0.0596 | De Rubeis S, 2014 | ||
| 14 | 105411605 | C | G | Sanger sequencing | neutral | 0.013 | De Rubeis S, 2014 | ||
| 14 | 105414377 | C | G | strong | neutral | 0.001 | Iossifov I, 2014 | ||
| 14 | 105414378 | A | G | strong | Iossifov I, 2014 | ||||
| 14 | 105423832 | G | A | Sanger sequencing | neutral | 0.4526 | Yuen RK, 2016 | ||
| 14 | 105423814 | C | T | c.146CGA>CAA | p.49R>Q | neutral | 0.3307 | Fromer M, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 14 | 105413930 | C | T | High-confidence mosaics | Resequencing | Lim ET, 2017 |
| 14 | 105413494 | G | A | High-confidence mosaics | Resequencing | Lim ET, 2017 |
| 14 | 105416714 | C | T | High-confidence mosaics | Resequencing | Lim ET, 2017 |
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! | |||||||