| Variant ID | 1458 |
|---|---|
| Entrez Gene ID | 4627 |
| Gene | MYH9 (GeneCards) |
| Location | hg19 22:36716407-36716407
hg38 22:36320362-36320362 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000022.10:g.36716407_36716407 del (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NM_002473.5 |
| mRNA length | 7554 |
| Reference length | 51304566 |
| Deleterious probability by DeFine | 0.9677 (Deleterious) |
|---|
| Entrez Gene ID | 4627 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MYH9 (GeneCards) |
| Number of variants in MYH9 in this database | 8 (view all the variants) |
| Full name | myosin heavy chain 9 |
| Band | 22q12.3 |
| Other IDs | Vega: OTTHUMG00000030429 OMIM: 160775 HGNC: HGNC:7579 Ensembl: ENSG00000100345 |
| Other names | MHA, FTNS, EPSTS, BDPLT6, DFNA17, MATINS, NMMHCA, NMHC-II-A, NMMHC-IIA |
| Summary | This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain which is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in this gene have been associated with non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [provided by RefSeq, Dec 2011] |
| Individual ID | 28867142.45 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |