Variant Details for CSMD3
Basic Information Top
| Gene Symbol: | CSMD3 ( KIAA1894 ) |
|---|---|
| Gene Full Name: | CUB and Sushi multiple domains 3 |
| Band: | 8q23.3 |
| Quick Links | Entrez ID:114788; OMIM: 608399; Uniprot ID:CSMD3_HUMAN; ENSEMBL ID: ENSG00000164796; HGNC ID: 19291 |
| 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 | 1 | 3 | 1 | 1 | 1 | 0 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000082 | 8 | 8q22.3-24.3 | 104716824 | 142002818 | 37285994 | gain | external link | Szatmari, 2007 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 8 | 113447648 | T | C | Sequenom | Michaelson JJ, 2012 | ||||
| 8 | 114388958 | ATATCTA | ATATCTATCTA | HiSeq X and Sanger | C Yuen RK, 2017 | ||||
| 8 | 113649210 | T | A | c.3551A>T | p.Asp1184Val | Sanger sequencing | deleterious | 0.9865 | Takata A, 2018 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 8 | 114449093 | G | C | mosaic | PASM | Dou Y, 2017 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 8 | 113599372 | A | C | S1270R | Toma C, 2014 |
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| Floris, 2008 |
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||