| Variant ID | 17290 |
|---|---|
| Entrez Gene ID | 23026 |
| Gene | MYO16 (GeneCards) |
| Location | hg19 13:109657414-109657414
hg38 13:109005066-109005066 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000013.10:g.109657414 T>C (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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0055 |
| CADD Raw score (version 1.3) | -0.057776 (Deleterious) |
| FATHMM raw prediction score | 0.14395 (Tolerated) |
| Deleterious probability by DeFine | 0.3409 (Neutral) |
| Entrez Gene ID | 23026 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MYO16 (GeneCards) |
| Number of variants in MYO16 in this database | 16 (view all the variants) |
| Full name | myosin XVI |
| Band | 13q33.3 |
| Other IDs | OMIM: 615479 HGNC: HGNC:29822 Ensembl: ENSG00000041515 |
| Other names | MYR8, MYAP3, NYAP3, Myo16b, PPP1R107 |
| Summary | This gene encodes an unconventional myosin protein. The encoded protein has been proposed to act as a serine/threonine phosphatase-1 targeting or regulatory subunit. Studies in a rat cell line suggest that this protein may regulate cell cycle progression. A variant within this gene may be associated with susceptibility to schizophrenia and elevated expression of this gene has been observed in the frontal cortex of human schizophrenia patients. [provided by RefSeq, Mar 2017] |
| Individual ID | 29217584.06 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |