| Variant ID | 28298 |
|---|---|
| Entrez Gene ID | 4628 |
| Gene | MYH10 (GeneCards) |
| Location | hg19 17:8611441-8611441
hg38 17:8708123-8708123 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000017.10:g.8611441 T>G (Genome Assembly: GRCh37) |
| 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 | 0.9953 |
| CADD Raw score (version 1.3) | 1.293984 (Deleterious) |
| FATHMM raw prediction score | 0.91629 (Tolerated) |
| Deleterious probability by DeFine | 0.8412 (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 | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |