Variant Details for RALGAPA1
Basic Information Top
| Gene Symbol: | RALGAPA1 ( DKFZp566D133,DKFZp667F074,GARNL1,GRIPE,KIAA0884,TULIP1 ) |
|---|---|
| Gene Full Name: | Ral GTPase activating protein, alpha subunit 1 (catalytic) |
| Band: | 14q13.2 |
| Quick Links | Entrez ID:253959; OMIM: 608884; Uniprot ID:RGPA1_HUMAN; ENSEMBL ID: ENSG00000174373; HGNC ID: 17770 |
| 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 | 3 | 1 | 0 | 0 | 0 | 4 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 14 | 36133921 | T | G | Sanger sequencing | deleterious | 0.846 | De Rubeis S, 2014 | ||
| 14 | 36096327 | TAAG | T | PCR or Sanger sequencing | Iossifov I, 2014 | ||||
| 14 | 36133877 | C | T | c.3781G>A | p.Val1261Ile | PCR and Sanger sequencing | neutral | 0.0723 | O'Roak BJ, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 14 | 36207803 | G | A | Parental Mosaic Transmitted | Krupp DR, 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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||