Variant Details for PLEKHG4
Basic Information Top
| Gene Symbol: | PLEKHG4 ( ARHGEF44,DKFZp434I216,PRTPHN1,SCA4 ) |
|---|---|
| Gene Full Name: | pleckstrin homology domain containing, family G (with RhoGef domain) member 4 |
| Band: | 16q22.1 |
| Quick Links | Entrez ID:25894; OMIM: 609526; Uniprot ID:PKHG4_HUMAN; ENSEMBL ID: ENSG00000196155; HGNC ID: 24501 |
| 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 | 1 | 0 | 0 | 0 | 0 | 4 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000275 | 16 | 16q13-22 | 55942499 | 74742499 | 18800000 | loss | external link | Wassink, 2001 |
| AutCNV0004781 | 9 | 9p24.3 | gain | Bonora E, 2014 | ||||
| AutCNV0004875 | 7 | 7q36.3 | 155288370 | 155295993 | 7623 | loss | external link | Gümü?lü KE, 2015 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 16 | 67315085 | C | T | c.811C>T | p.Gln271* | Not_tested | 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! | |||||||