| Variant ID | 29900 |
|---|---|
| Entrez Gene ID | 51168 |
| Gene | MYO15A (GeneCards) |
| Location | hg19 17:18039050-18039050
hg38 17:18135736-18135736 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000017.10:g.18039050 T>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 | 0.731 |
| CADD Raw score (version 1.3) | 4.291005 (Deleterious) |
| FATHMM raw prediction score | 0.99384 (Tolerated) |
| SIFT score | 0.013 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.005 (Deleterious) |
| PROVEAN score | -3.86 (Deleterious) |
| MetaSVM score | 1.008 (Deleterious) |
| MetaLR score | 0.896 (Deleterious) |
| MCAP score | 0.37 (Deleterious) |
| FitCons score | 0.497 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.25 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.835 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.145 |
| Deleterious probability by iFish2 | 0.9305 (Deleterious) |
| Deleterious probability by DeFine | 0.9582 (Deleterious) |
| 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 | 28867142.20 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |