AutismKB 2.0

Variant Details for MYH9


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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 LinksEntrez 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 deleterious0.9995 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 deleterious0.9657 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!




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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018