Variant Details for IFNA4
Basic Information Top
| Gene Symbol: | IFNA4 ( IFN-alpha4a,INFA4,MGC142200 ) |
|---|---|
| Gene Full Name: | interferon, alpha 4 |
| Band: | 9p21.3 |
| Quick Links | Entrez ID:3441; OMIM: 147564; Uniprot ID:IFNA4_HUMAN; ENSEMBL ID: ENSG00000236637; HGNC ID: 5425 |
| 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 | 1 | 1 | 0 | 0 | 1 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000084 | 9 | 9p13.3-24.3 | 249391 | 33926500 | 33677109 | gain | external link | Szatmari, 2007 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 9 | 21187406 | C | c.125C>G | p.Ala42Gly | neutral | 0.012 | Bramswig NC, 2017 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 9 | 21187406 | G | C | Low-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 |
|---|---|---|---|---|---|---|---|
| AutLD0000078 | 9p21.2-21.3 | 9 | D9S171/D9S161 | 2.12 | - | - | Lamb, 2005 |