| Variant ID | 8604 |
|---|---|
| Entrez Gene ID | 4651 |
| Gene | MYO10 (GeneCards) |
| Location | hg19 5:16920114-16920114
hg38 5:16920005-16920005 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000005.9:g.16920114 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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3372 |
| CADD Raw score (version 1.3) | 0.036767 (Deleterious) |
| FATHMM raw prediction score | 0.07566 (Tolerated) |
| Deleterious probability by DeFine | 0.0762 (Neutral) |
| Entrez Gene ID | 4651 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MYO10 (GeneCards) |
| Number of variants in MYO10 in this database | 10 (view all the variants) |
| Full name | myosin X |
| Band | 5p15.1 |
| Other IDs | Vega: OTTHUMG00000161822 OMIM: 601481 HGNC: HGNC:7593 Ensembl: ENSG00000145555 |
| Other names | None |
| Summary | This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-10 (MYH10). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. This gene functions as an actin-based molecular motor and plays a role in integration of F-actin and microtubule cytoskeletons during meiosis. [provided by RefSeq, Dec 2011] |
| Individual ID | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |