Variant Details for MEF2D
Basic Information Top
| Gene Symbol: | MEF2D ( DKFZp686I1536 ) |
|---|---|
| Gene Full Name: | myocyte enhancer factor 2D |
| Band: | 1q22 |
| Quick Links | Entrez ID:4209; OMIM: 600663; Uniprot ID:MEF2D_HUMAN; ENSEMBL ID: ENSG00000116604; HGNC ID: 6997 |
| 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 | 2 | 1 | 0 | 0 | 0 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000459 | 1 | 1q22-23.1 | 155804696 | 156539912 | 735216 | gain | external link | Gregory, 2009 |
| AutCNV0000458 | 1 | 1q21-22 | 155680449 | 156433946 | 753497 | gain | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 156452417 | G | A | Sanger sequencing | deleterious | 0.9819 | De Rubeis S, 2014 | ||
| 1 | 156446863 | G | A | PCR or Sanger sequencing | deleterious | 0.9783 | Iossifov I, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 1 | 156452416 | C | T | Mosaic | Krupp DR, 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! | |||||||