Variant Details for MYH4
Basic Information Top
Gene Symbol: | MYH4 ( MYH2B,MyHC-2B,MyHC-IIb ) |
---|---|
Gene Full Name: | myosin, heavy chain 4, skeletal muscle |
Band: | 17p13.1 |
Quick Links | Entrez ID:4622; OMIM: 160742; Uniprot ID:MYH4_HUMAN; ENSEMBL ID: ENSG00000141048; HGNC ID: 7574 |
Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic Top
Click 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 | 0 | 0 | 1 | 4 |
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 Top
iFish (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 | 10355401 | T | C | Sanger sequencing | deleterious | 0.9986 | Yuen RK, 2016 |
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 |
---|---|---|---|---|---|---|---|
AutLD0000082 | 17p13.1 | 17 | D17S513 | 1.13 | - | - | Lamb, 2005 |