| Variant ID | 29596 |
|---|---|
| Entrez Gene ID | 4628 |
| Gene | MYH10 (GeneCards) |
| Location | hg19 17:8526323-8526323
hg38 17:8623005-8623005 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000017.10:g.8526323 G>A (Genome Assembly: hg19) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.0135 |
| CADD Raw score (version 1.3) | 6.258519 (Deleterious) |
| FATHMM raw prediction score | 0.98799 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 4.275 (Deleterious) |
| PROVEAN score | -8.66 (Deleterious) |
| MetaSVM score | 1.1 (Deleterious) |
| MetaLR score | 0.949 (Deleterious) |
| MCAP score | 0.392 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.82 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.94 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 17.689 |
| Deleterious probability by iFish2 | 0.9928 (Deleterious) |
| Deleterious probability by DeFine | 0.9193 (Deleterious) |
| Entrez Gene ID | 4628 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MYH10 (GeneCards) |
| Number of variants in MYH10 in this database | 4 (view all the variants) |
| Full name | myosin heavy chain 10 |
| Band | 17p13.1 |
| Other IDs | Vega: OTTHUMG00000108195 OMIM: 160776 HGNC: HGNC:7568 Ensembl: ENSG00000133026 |
| Other names | NMMHCB, NMMHC-IIB |
| Summary | This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-10 (MYO10). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene have been associated with May-Hegglin anomaly and developmental defects in brain and heart. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] |
| Individual ID | 28714951.272 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |