Variant Details for MYH14
Basic Information Top
| Gene Symbol: | MYH14 ( DFNA4,DKFZp667A1311,FLJ13881,FLJ43092,KIAA2034,MHC16,MYH17,NMHC-II-C,myosin ) |
|---|---|
| Gene Full Name: | myosin, heavy chain 14, non-muscle |
| Band: | 19q13.33 |
| Quick Links | Entrez ID:79784; OMIM: 608568; Uniprot ID:MYH14_HUMAN; ENSEMBL ID: ENSG00000105357; HGNC ID: 23212 |
| 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 | 0 | 4 | 1 | 0 | 1 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000648 | 19 | 19q13.33 | 49321884 | 50810714 | 1488830 | loss | external link | Gregory, 2009 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 19 | 50783305 | G | T | mosaic | PASM | Dou Y, 2017 |
| 19 | 50753076 | G | A | High-confidence mosaics | Resequencing | Lim ET, 2017 |
| 19 | 50753076 | G | A | Mosaic | Krupp DR, 2017 | |
| 19 | 50783305 | G | T | Mosaic | Krupp DR, 2017 |
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| chr19 | 50752252 | C | p.F446fs | Y | Yuen RK, 2015 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000119 | 19q13.33-13.41 | 19 | - | - | 1.64 | - | Spence, 2006 |