Variant Details for PDGFRA
Basic Information Top
| Gene Symbol: | PDGFRA ( CD140A,MGC74795,PDGFR2,RHEPDGFRA ) |
|---|---|
| Gene Full Name: | platelet-derived growth factor receptor, alpha polypeptide |
| Band: | 4q12 |
| Quick Links | Entrez ID:5156; OMIM: 173490; Uniprot ID:PGFRA_HUMAN; ENSEMBL ID: ENSG00000134853; HGNC ID: 8803 |
| 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 | 3 | 0 | 0 | 0 | 0 | 0 | 3 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002479 | 4 | 4q12 | 54471672 | 54536699 | 65027 | gain | external link | Pinto, 2010 |
| AutCNV0001703 | 4 | 4q12 | 55156380 | 55324132 | 167752 | gain | external link | Pinto, 2010 |
| AutCNV0000703 | 4 | 4q12 | 52705243 | 59505243 | 6800000 | loss | external link | Berkel, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||