Variant Details for EEF1A2
Basic Information Top
| Gene Symbol: | EEF1A2 ( EEF1AL,EF-1-alpha-2,EF1A,FLJ41696,HS1,STN,STNL ) |
|---|---|
| Gene Full Name: | eukaryotic translation elongation factor 1 alpha 2 |
| Band: | 20q13.33 |
| Quick Links | Entrez ID:1917; OMIM: 602959; Uniprot ID:EF1A2_HUMAN; ENSEMBL ID: ENSG00000101210; HGNC ID: 3192 |
| 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 | 1 | 0 | 0 | 10 | 0 | 15 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000155 | 20 | 20q13.33 | 61478894 | 62906556 | 1427662 | gain | external link | Marshall, 2008 |
| AutCNV0000696 | 20 | 20q13.33 | 58466605 | 62965520 | 4498915 | loss | external link | Berkel, 2010 |
| AutCNV0004382 | 20 | 20q13.33 | 61478894 | 62906556 | 1427662 | gain | external link | Sanders, 2011 |
| AutCNV0004385 | 20 | 20q13.33 | 62118068 | 62198348 | 80280 | gain | external link | Sanders, 2011 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 20 | 62120390 | C | T | PCR or Sanger sequencing | deleterious | 0.8102 | Iossifov I, 2014 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| c.754G>C | p.Asp252His | Y | Nakajima J, 2015 | ||||||
| c.364G>A | p.Glu122Lys | Y | Nakajima J, 2015 | ||||||
| G208A | G70S | Lam WW, 2016 | |||||||
| A211C | I71L | Lam WW, 2016 | |||||||
| G271A | D91N | Lam WW, 2016 | |||||||
| T292C | F98L | Lam WW, 2016 | |||||||
| G364A | E122K | Lam WW, 2016 | |||||||
| G370A | E124K | Lam WW, 2016 | |||||||
| G754C | D252H | Lam WW, 2016 | |||||||
| C1267T | R423C | Lam WW, 2016 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||