| Variant ID | 19782 |
|---|---|
| Entrez Gene ID | 51168 |
| Gene | MYO15A (GeneCards) |
| Location | hg19 17:18079117-18079117
hg38 17:18175803-18175803 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000017.10:g.18079117 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) | 0.00003234 |
|---|---|
| EIGEN score | -0.084 |
| CADD Raw score (version 1.3) | 0.525884 (Deleterious) |
| FATHMM raw prediction score | 0.14575 (Tolerated) |
| Deleterious probability by DeFine | 0.4066 (Neutral) |
| Entrez Gene ID | 51168 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MYO15A (GeneCards) |
| Number of variants in MYO15A in this database | 2 (view all the variants) |
| Full name | myosin XVA |
| Band | 17p11.2 |
| Other IDs | Vega: OTTHUMG00000059390 OMIM: 602666 HGNC: HGNC:7594 Ensembl: ENSG00000091536 |
| Other names | DFNB3, MYO15 |
| Summary | This gene encodes an unconventional myosin. This protein differs from other myosins in that it has a long N-terminal extension preceding the conserved motor domain. Studies in mice suggest that this protein is necessary for actin organization in the hair cells of the cochlea. Mutations in this gene have been associated with profound, congenital, neurosensory, nonsyndromal deafness. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Read-through transcripts containing an upstream gene and this gene have been identified, but they are not thought to encode a fusion protein. Several alternatively spliced transcript variants have been described, but their full length sequences have not been determined. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.02 (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; |