Variant Details for MYH8
Basic Information Top
| Gene Symbol: | MYH8 ( MyHC-peri,MyHC-pn,gtMHC-F ) |
|---|---|
| Gene Full Name: | myosin, heavy chain 8, skeletal muscle, perinatal |
| Band: | 17p13.1 |
| Quick Links | Entrez ID:4626; OMIM: 160741; Uniprot ID:MYH8_HUMAN; ENSEMBL ID: ENSG00000133020; HGNC ID: 7578 |
| 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 | 1 | 0 | 2 | 0 | 1 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000237 | 17 | 17p13.1 | 9964033 | 10361282 | 397249 | gain | external link | Christian, 2008 |
| AutCNV0004000 | 17 | 17p13.1 | 9988450 | 10415716 | 427266 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 17 | 10296398 | T | G | strong | 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 |
|---|---|---|---|---|---|---|---|---|---|
| 17 | 10298628 | C | G | Y | Cukier HN, 2014 | ||||
| 17 | 10298599 | C | T | Y | Cukier HN, 2014 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000082 | 17p13.1 | 17 | D17S513 | 1.13 | - | - | Lamb, 2005 |