Variant Details for LRRC4C
Basic Information Top
| Gene Symbol: | LRRC4C ( KIAA1580,NGL-1,NGL1 ) |
|---|---|
| Gene Full Name: | leucine rich repeat containing 4C |
| Band: | 11p12 |
| Quick Links | Entrez ID:57689; OMIM: 608817; Uniprot ID:LRC4C_HUMAN; ENSEMBL ID: ENSG00000148948; HGNC ID: 29317 |
| 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 | 0 | 0 | 0 | 0 | 1 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000178 | 11 | 11p12 | 40460978 | 40653824 | 192846 | loss | external link | Marshall, 2008 |
| AutCNV0000177 | 11 | 11p12 | 40329224 | 40592162 | 262938 | loss | external link | Marshall, 2008 |
| AutCNV0001992 | 11 | 11p12 | 40348304 | 40746722 | 398418 | gain | external link | Pinto, 2010 |
| AutCNV0001302 | 11 | 11p12 | 40423092 | 40593780 | 170688 | loss | external link | Pinto, 2010 |
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 |
|---|---|---|---|---|---|---|
| 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 |
|---|---|---|---|---|---|---|---|
| AutLD0000015 | 11p11.2-13 | 11 | D11S1392/D11S1993 | 2.24 | - | - | Yonan, 2003 |