Variant Details for MEF2C
Basic Information Top
| Gene Symbol: | MEF2C ( C5DELq14.3; DEL5q14.3 ) |
|---|---|
| Gene Full Name: | myocyte enhancer factor 2C |
| Band: | 5q14.3 |
| Quick Links | Entrez ID:4208; OMIM: 600662; Uniprot ID:MEF2C_HUMAN; ENSEMBL ID: ENSG00000081189; HGNC ID: 6996 |
| 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 | 5 | 2 | 1 | 0 | 0 | 0 | 8 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000706 | 5 | 5q14.3 | 82764244 | 91874244 | 9110000 | loss | external link | Ezugha, 2010 |
| AutCNV0000662 | 5 | 5q14.3 | 87198371 | 88338502 | 1140131 | loss | external link | Novara, 2010 |
| AutCNV0000661 | 5 | 5q14.3 | 87942771 | 88261128 | 318357 | loss | external link | Novara, 2010 |
| AutCNV0005715 | 5 | gain | C Yuen RK, 2017 | |||||
| AutCNV0005714 | 5 | loss | C Yuen RK, 2017 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 5 | 88100432 | T | C | c.241A>G | p.Asn81Asp | Sanger sequencing | deleterious | 0.9929 | Neale BM, 2012 |
| 5 | 88100432 | T | C | Sanger sequencing | deleterious | 0.9929 | De Rubeis S, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 5 | 88018537 | G | C | High-confidence mosaics | Resequencing | Lim ET, 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 |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||