| Variant ID | 29510 |
|---|---|
| Entrez Gene ID | 283446 |
| Gene | MYO1H (GeneCards) |
| Location | hg19 12:109877458-109877458
hg38 12:109439653-109439653 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000012.11:g.109877458 C>T (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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003228 |
|---|---|
| EIGEN score | 0.7047 |
| CADD Raw score (version 1.3) | 7.550026 (Deleterious) |
| FATHMM raw prediction score | 0.87841 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.015 (Deleterious) |
| PROVEAN score | -7.68 (Deleterious) |
| MetaSVM score | 0.955 (Deleterious) |
| MetaLR score | 0.875 (Deleterious) |
| MCAP score | 0.163 (Deleterious) |
| FitCons score | 0.428 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.43 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.103 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.993 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.753 |
| Deleterious probability by iFish2 | 0.4755 (Neutral) |
| Deleterious probability by DeFine | 0.9489 (Deleterious) |
| Entrez Gene ID | 283446 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MYO1H (GeneCards) |
| Number of variants in MYO1H in this database | 2 (view all the variants) |
| Full name | myosin IH |
| Band | 12q24.11 |
| Other IDs | Vega: OTTHUMG00000169252 OMIM: 614636 HGNC: HGNC:13879 Ensembl: ENSG00000174527 |
| Other names | None |
| Summary | None |
| Individual ID | 28714951.186 (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; |