| Variant ID | 29588 |
|---|---|
| Entrez Gene ID | 55930 |
| Gene | MYO5C (GeneCards) |
| Location | hg19 15:52571742-52571742
hg38 15:52279545-52279545 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000015.9:g.52571742 G>A (Genome Assembly: hg19) |
| 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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003229 |
|---|---|
| Variant IDs in COSMIC (version 89) | 4893786 |
| Variant occurences in COSMIC | 1(skin) |
| EIGEN score | 1.1058 |
| CADD Raw score (version 1.3) | 7.938191 (Deleterious) |
| FATHMM raw prediction score | 0.98835 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 4.275 (Deleterious) |
| PROVEAN score | -6.76 (Deleterious) |
| MetaSVM score | 1.043 (Deleterious) |
| MetaLR score | 0.982 (Deleterious) |
| MCAP score | 0.335 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.89 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.998 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.256 |
| Deleterious probability by iFish2 | 0.5125 (Deleterious) |
| Deleterious probability by DeFine | 0.9453 (Deleterious) |
| Entrez Gene ID | 55930 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MYO5C (GeneCards) |
| Number of variants in MYO5C in this database | 3 (view all the variants) |
| Full name | myosin VC |
| Band | 15q21.2 |
| Other IDs | Vega: OTTHUMG00000172630 OMIM: 610022 HGNC: HGNC:7604 Ensembl: ENSG00000128833 |
| Other names | None |
| Summary | None |
| Individual ID | 28714951.264 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |