Variant Details for DNMT3A
Basic Information Top
| Gene Symbol: | DNMT3A ( DNMT3A2,M.HsaIIIA ) |
|---|---|
| Gene Full Name: | DNA (cytosine-5-)-methyltransferase 3 alpha |
| Band: | 2p23.3 |
| Quick Links | Entrez ID:1788; OMIM: 602769; Uniprot ID:DNM3A_HUMAN; ENSEMBL ID: ENSG00000119772; HGNC ID: 2978 |
| 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 | 0 | 6 | 0 | 0 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| No related data! | ||||||||
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 |
|---|---|---|---|---|---|---|---|---|---|
| 2 | 25464520 | C | A | c.1993G>T | p.Val665Leu | Sanger sequencing | neutral | 0.1703 | Sanders SJ, 2012 |
| 2 | 25466800 | G | A | c.1903C>T | p.Arg635Trp | Sanger sequencing | neutral | 0.3113 | Jiang YH, 2013 |
| 2 | 25463289 | T | C | Sanger sequencing | deleterious | 0.8708 | De Rubeis S, 2014 | ||
| 2 | 25457176 | G | A | strong | deleterious | 0.8708 | Iossifov I, 2014 | ||
| 2 | 25466800 | G | A | Sanger sequencing | neutral | 0.3113 | Yuen RK, 2016 | ||
| 2 | 25466800 | c.C1903T | neutral | 0.3113 | Jiang YH, 2013 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 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! | |||||||