Variant Details for MSH5
Basic Information Top
| Gene Symbol: | MSH5 ( DKFZp434C1615,G7,MGC2939,MUTSH5,NG23 ) |
|---|---|
| Gene Full Name: | mutS homolog 5 (E. coli) |
| Band: | 6p21.33 |
| Quick Links | Entrez ID:4439; OMIM: 603382; Uniprot ID:MSH5_HUMAN; ENSEMBL ID: ENSG00000204410; HGNC ID: 7328 |
| 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 | 4 | 2 | 0 | 0 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000490 | 6 | 6p21.32-21.33 | 31477607 | 32122919 | 645312 | gain | external link | Gregory, 2009 |
| AutCNV0000489 | 6 | 6p21.32-21.33 | 31477607 | 32199000 | 721393 | gain | external link | Gregory, 2009 |
| AutCNV0000488 | 6 | 6p21.32-21.33 | 31405443 | 32199000 | 793557 | gain | external link | Gregory, 2009 |
| AutCNV0000699 | 6 | 6p21 | 29792021 | 45092022 | 15300001 | gain | external link | Berkel, 2010 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| 6 | 31726346 | G | A | Sanger sequencing | neutral | 0.1408 | De Rubeis S, 2014 | ||
| 6 | 31726346 | G | A | c.1165GCT>ACT | p.389A>T | neutral | 0.1408 | Fromer M, 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! | |||||||