Variant Details for MYH9
Basic Information Top
Gene Symbol: | MYH9 ( DFNA17,EPSTS,FTNS,MGC104539,MHA,NMHC-II-A,NMMHCA ) |
---|---|
Gene Full Name: | myosin, heavy chain 9, non-muscle |
Band: | 22q12.3 |
Quick Links | Entrez ID:4627; OMIM: 160775; Uniprot ID:MYH9_HUMAN; ENSEMBL ID: ENSG00000100345; HGNC ID: 7579 |
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 | 5 | 2 | 0 | 0 | 0 | 9 |
CNVs/SVs Top
CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
---|---|---|---|---|---|---|---|---|
AutCNV0000382 | 22 | 22q12.3 | 32170000 | 37570054 | 5400054 | external link | Zwaag, 2009 | |
AutCNV0004027 | 22 | 22q12.3 | 36708017 | 36912190 | 204173 | 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 |
---|---|---|---|---|---|---|---|---|---|
22 | 36684831 | C | T | c.4712G>A | p.Arg1571Gln | Sanger sequencing | deleterious | 0.9995 | Sanders SJ, 2012 |
22 | 36690159 | G | A | Sanger sequencing | De Rubeis S, 2014 | ||||
22 | 36690219 | C | T | Sanger sequencing | De Rubeis S, 2014 | ||||
22 | 36692966 | G | A | Sanger sequencing | De Rubeis S, 2014 | ||||
22 | 36697021 | C | T | c.2714G>A | p.Arg905His | Sanger sequencing | deleterious | 0.9657 | Li J, 2017 |
NGS Mosaic Mutations Top
Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
---|---|---|---|---|---|---|
22 | 36716407 | G | A | mosaic | PASM | Dou Y, 2017 |
22 | 36716407 | G | A | Mosaic | Krupp DR, 2017 |
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! |