Variant Details for PHF3
Basic Information Top
| Gene Symbol: | PHF3 ( KIAA0244,MGC142210,MGC142212 ) |
|---|---|
| Gene Full Name: | PHD finger protein 3 |
| Band: | 6q12 |
| Quick Links | Entrez ID:23469; OMIM: 607789; Uniprot ID:PHF3_HUMAN; ENSEMBL ID: ENSG00000118482; HGNC ID: 8921 |
| 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 | 0 | 5 | 0 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| No related data! | ||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| 6 | 64423242 | C | T | p.Arg1920Cys | Sanger sequencing | neutral | 0.0832 | Sanders SJ, 2012 | |
| 6 | 64413433 | CCG | C | PCR amplification and Sanger s | Dong S, 2014 | ||||
| 6 | 64423108 | C | T | p.Ala1875Val | Sanger | neutral | 0.0188 | Krumm N, 2015 | |
| 6 | 64413518 | CACAGACAG | CACAG | HiSeq X and Sanger | C Yuen RK, 2017 | ||||
| 6 | 64413518 | CACAG | C | HiSeq X and Sanger | C Yuen RK, 2017 |
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! | |||||||