Variant Details for MMRN2
Basic Information Top
| Gene Symbol: | MMRN2 ( EMILIN3,EndoGlyx-1,FLJ13465 ) |
|---|---|
| Gene Full Name: | multimerin 2 |
| Band: | 10q23.2 |
| Quick Links | Entrez ID:79812; OMIM: 608925; Uniprot ID:MMRN2_HUMAN; ENSEMBL ID: ENSG00000173269; HGNC ID: 19888 |
| 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 | 3 | 2 | 0 | 1 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000198 | 10 | 10q22.3-23.3 | 81634020 | 89221020 | 7587000 | loss | external link | Balciuniene, 2007 |
| AutCNV0000553 | 10 | 10q23.2 | 88441442 | 88920777 | 479335 | gain | external link | Gregory, 2009 |
| AutCNV0003322 | 10 | 10q23.2 | 88579360 | 88716577 | 137217 | gain | external link | Gai, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 10 | 88703271 | C | T | c.1270G>A | p.Asp424Asn | Sanger sequencing | neutral | 0.2049 | Neale BM, 2012 |
| 10 | 88703271 | C | T | Sanger sequencing | neutral | 0.2049 | De Rubeis S, 2014 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 10 | 88703106 | C | T | Q479* | Toma C, 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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||