Variant Details for MCPH1
Basic Information Top
| Gene Symbol: | MCPH1 ( BRIT1,FLJ12847,MCT ) |
|---|---|
| Gene Full Name: | microcephalin 1 |
| Band: | 8p23.1 |
| Quick Links | Entrez ID:79648; OMIM: 607117; Uniprot ID:MCPH1_HUMAN; ENSEMBL ID: ENSG00000147316; HGNC ID: 6954 |
| 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 | 7 | 3 | 0 | 0 | 0 | 0 | 10 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000271 | 8 | 8p23 | 10000 | 12655629 | 12645629 | loss | external link | Wassink, 2001 |
| AutCNV0000264 | 8 | 8p21-23 | 10000 | 29644081 | 29634081 | gain | external link | Papanikolaou, 2006 |
| AutCNV0000023 | 8 | 8p23.1-23.3 | 1143493 | 6793540 | 5650047 | loss | external link | Szatmari, 2007 |
| AutCNV0000682 | 8 | 8p23.1-p23.2 | 6120950 | 6278908 | 157958 | gain | external link | Ozgen, 2009 |
| AutCNV0000681 | 8 | 8p23.1 | 6232437 | 6325975 | 93538 | loss | external link | Ozgen, 2009 |
| AutCNV0001890 | 8 | 8p23.1 | 6441378 | 6564609 | 123231 | loss | external link | Pinto, 2010 |
| AutCNV0003940 | 8 | 8p23.1 | 6469896 | 6754122 | 284226 | gain | external link | Levy, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 8 | 6500546 | T | A | c.2484T>A | p.Pro828Pro | Sanger sequencing | Neale BM, 2012 | ||
| 8 | 6500546 | T | A | Sanger sequencing | De Rubeis S, 2014 | ||||
| 8 | 6272346 | A | G | PCR or Sanger sequencing | deleterious | 0.9146 | Iossifov I, 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 |
|---|---|---|---|---|---|---|---|---|---|
| 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! | |||||||