Variant Details for LRCH3
Basic Information Top
| Gene Symbol: | LRCH3 ( FLJ20994,FLJ43245,FLJ44976,MGC4126 ) |
|---|---|
| Gene Full Name: | leucine-rich repeats and calponin homology (CH) domain containing 3 |
| Band: | 3q29 |
| Quick Links | Entrez ID:84859; OMIM: NA; Uniprot ID:LRCH3_HUMAN; ENSEMBL ID: ENSG00000186001; HGNC ID: 28637 |
| 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 | 4 | 1 | 1 | 0 | 0 | 1 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0002469 | 3 | 3q29 | 197567661 | 197918149 | 350488 | gain | external link | Pinto, 2010 |
| AutCNV0002468 | 3 | 3q29 | 197567661 | 197864463 | 296802 | gain | external link | Pinto, 2010 |
| AutCNV0000919 | 3 | 3q29 | 197567661 | 197918149 | 350488 | gain | external link | Pinto, 2010 |
| AutCNV0003900 | 3 | 3q29 | 197563963 | 197651710 | 87747 | gain | external link | Levy, 2011 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 3 | 197544071 | G | A | PCR or Sanger sequencing | Iossifov I, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 3 | 197562676 | C | 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000048 | 3q29 | 3 | D3S2418 | 2.45 | - | - | Risch, 1999 |