Variant Details for LAMA2
Basic Information Top
| Gene Symbol: | LAMA2 ( LAMM ) |
|---|---|
| Gene Full Name: | laminin, alpha 2 |
| Band: | 6q22.33 |
| Quick Links | Entrez ID:3908; OMIM: 156225; Uniprot ID:LAMA2_HUMAN; ENSEMBL ID: ENSG00000196569; HGNC ID: 6482 |
| 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 | 1 | 2 | 1 | 0 | 1 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001820 | 6 | 6q22.33 | 129269412 | 129332591 | 63179 | gain | external link | Pinto, 2010 |
| AutCNV0004797 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 6 | 129468180 | A | C | PCR or Sanger sequencing | deleterious | 0.7211 | Iossifov I, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 6 | 129468180 | A | C | High-confidence mosaics | Resequencing | Lim ET, 2017 |
| 6 | 129371158 | G | C | Low-confidence mosaics | Resequencing | Lim ET, 2017 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 6 | 129513850 | T | A | Y | Cukier HN, 2014 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000152 | 6q22.32-q24.1 | 6 | rs1570056 | 1.81 | - | - | Allen-Brady, 2010 |