| Variant ID | 20185 |
|---|---|
| Entrez Gene ID | 4628 |
| Gene | MYH10 (GeneCards) |
| Location | hg19 17:8488441-8488441
hg38 17:8585123-8585123 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000017.10:g.8488441 G>A (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 | -0.3199 |
| CADD Raw score (version 1.3) | -0.073086 (Deleterious) |
| FATHMM raw prediction score | 0.09026 (Tolerated) |
| Deleterious probability by DeFine | 0.0449 (Neutral) |
| 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 | 29217584.24 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |