Variant Details for LRBA
Basic Information Top
| Gene Symbol: | LRBA ( BGL,CDC4L,DKFZp686A09128,DKFZp686K03100,DKFZp686P2258,FLJ16600,FLJ25686,LAB300,LBA,MGC72098 ) |
|---|---|
| Gene Full Name: | LPS-responsive vesicle trafficking, beach and anchor containing |
| Band: | 4q31.3 |
| Quick Links | Entrez ID:987; OMIM: 606453; Uniprot ID:LRBA_HUMAN; ENSEMBL ID: ENSG00000198589; HGNC ID: 1742 |
| 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 | 2 | 0 | 1 | 0 | 0 | 0 | 3 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0003547 | 4 | 4q31.3 | 151534545 | 151641186 | 106641 | loss | external link | Gai, 2011 |
| AutCNV0004815 | 2 | 2q23.1 | gain | Mullegama SV, 2014 |
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 |
|---|---|---|---|---|---|---|
| 4 | 151749715 | G | T | Mosaic | 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! | |||||||