Variant Details for LRGUK
Basic Information Top
| Gene Symbol: | LRGUK ( FLJ32786 ) |
|---|---|
| Gene Full Name: | leucine-rich repeats and guanylate kinase domain containing |
| Band: | 7q33 |
| Quick Links | Entrez ID:136332; OMIM: NA; Uniprot ID:LRGUK_HUMAN; ENSEMBL ID: ENSG00000155530; HGNC ID: 21964 |
| 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 | 4 | 0 | 0 | 0 | 1 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 7 | 133842813 | A | G | c.696A>G | p.Gly232Gly | Sanger sequencing | Jiang YH, 2013 | ||
| 7 | 133827810 | C | T | strong | Iossifov I, 2014 | ||||
| 7 | 133842813 | A | G | Sanger sequencing | Yuen RK, 2016 | ||||
| 7 | 133842813 | c.A696G | Jiang YH, 2013 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000121 | 7q33 | 7 | D7S495 | 1.66 | - | - | Shao, 2002 |