Variant Details for ARHGAP19
Basic Information Top
| Gene Symbol: | ARHGAP19 ( DKFZp313K217,MGC138804,MGC138805,MGC14258 ) |
|---|---|
| Gene Full Name: | Rho GTPase activating protein 19 |
| Band: | 10q24.1 |
| Quick Links | Entrez ID:84986; OMIM: 611587; Uniprot ID:RHG19_HUMAN; ENSEMBL ID: ENSG00000213390; HGNC ID: 23724 |
| 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 | 1 | 2 | 0 | 0 | 0 | 3 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 10 | 98994997 | p.Arg421Cys | Sanger sequencing | Hashimoto R, 2016 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 10 | 99024633 | G | A | mosaic | PASM | Dou Y, 2017 |