Variant Details for LAMC3
Basic Information Top
| Gene Symbol: | LAMC3 ( DKFZp434E202 ) |
|---|---|
| Gene Full Name: | laminin, gamma 3 |
| Band: | 9q34.12 |
| Quick Links | Entrez ID:10319; OMIM: 604349; Uniprot ID:LAMC3_HUMAN; ENSEMBL ID: ENSG00000050555; HGNC ID: 6494 |
| 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 | 1 | 8 | 0 | 7 | 0 | 0 | 16 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000549 | 9 | 9q34.12-34.2 | 133689525 | 136169833 | 2480308 | loss | external link | Gregory, 2009 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 9 | 133914290 | A | G | c.1016A>G | p.Asp339Gly | Sanger sequencing | deleterious | 0.5885 | O'Roak BJ, 2011 |
| 9 | 133914290 | A | R | p.Asp339Gly | Sanger sequencing | deleterious | 0.5885 | O'Roak BJ, 2012 | |
| 9 | 133952690 | A | R | p.Tyr1249Cys | Sanger sequencing | O'Roak BJ, 2012 | |||
| 9 | 133942350 | G | A | c.2351G>A | p.Arg784Gln | Sanger sequencing | deleterious | 0.672 | Jiang YH, 2013 |
| 9 | 133942350 | G | A | Sanger sequencing | deleterious | 0.672 | Yuen RK, 2016 | ||
| 9 | 133942350 | c.G2351A | deleterious | 0.672 | Jiang YH, 2013 | ||||
| 9 | 134962869 | A | p.Tyr1249Cys | O'Roak BJ, 2012 | |||||
| 9 | 134924469 | A | p.Asp339Gly | O'Roak BJ, 2012 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 9 | 134921899 | G | S | c.976+1G>C | O'Roak BJ, 2012 | ||||
| 9 | 134942682 | T | W | p.Cys709X | O'Roak BJ, 2012 | ||||
| 9 | 134952532 | * | -C/* | p.Cys786ValfsX98 | O'Roak BJ, 2012 | ||||
| 9 | 134964808 | C | Y | p.Arg1291X | O'Roak BJ, 2012 | ||||
| P1522L | Y | Alvarez-Mora MI, 2016 | |||||||
| A972T | Y | Alvarez-Mora MI, 2016 | |||||||
| A1232T | Y | Alvarez-Mora MI, 2016 |
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! | |||||||