Variant Details for EGLN2
Basic Information Top
| Gene Symbol: | EGLN2 ( DKFZp434E026,EIT6,HIFPH1,HPH-3,PHD1 ) |
|---|---|
| Gene Full Name: | egl nine homolog 2 (C. elegans) |
| Band: | 19q13.2 |
| Quick Links | Entrez ID:112398; OMIM: 606424; Uniprot ID:EGLN2_HUMAN; ENSEMBL ID: ENSG00000171570; HGNC ID: 14660 |
| 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 | 5 | 2 | 0 | 0 | 0 | 0 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000377 | 19 | 19q13.2 | 38708160 | 43108160 | 4400000 | external link | Zwaag, 2009 | |
| AutCNV0000376 | 19 | 19q13.2 | 38708160 | 43108160 | 4400000 | external link | Zwaag, 2009 | |
| AutCNV0000379 | 19 | 19q13.2 | 38708160 | 43108160 | 4400000 | external link | Zwaag, 2009 | |
| AutCNV0000378 | 19 | 19q13.2 | 38708160 | 43108160 | 4400000 | external link | Zwaag, 2009 | |
| AutCNV0002966 | 19 | 19q13.2 | 41215806 | 41350039 | 134233 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 19 | 41306892 | C | A | Sanger sequencing | neutral | 0.2944 | De Rubeis S, 2014 | ||
| 19 | 41306763 | G | A | c.286G>A | p.Ala96Thr | Not_tested | neutral | 0.1523 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||