| Variant ID | 29991 |
|---|---|
| Entrez Gene ID | 4622 |
| Gene | MYH4 (GeneCards) |
| Location | hg19 17:10354727-10354727
hg38 17:10451410-10451410 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000017.10:g.10354727 T>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 1261 |
| Amino acid changes in protein | S > R |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NM_017533 |
| mRNA length | NA |
| Reference length | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0.002 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs34610503 |
| EIGEN score | 0.5208 |
| CADD Raw score (version 1.3) | 4.26905 (Deleterious) |
| FATHMM raw prediction score | 0.89744 (Tolerated) |
| SIFT score | 0.002 (Deleterious) |
| LRT score | 0.001 |
| MutationTaster score | 0.979 (Deleterious) |
| MutatioinAssessor score | 2.515 (Deleterious) |
| PROVEAN score | -2.37 (Tolerated) |
| MetaSVM score | 0.444 (Deleterious) |
| MetaLR score | 0.646 (Deleterious) |
| MCAP score | 0.025 (Tolerated) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.62 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.247 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.995 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.245 |
| Deleterious probability by iFish2 | 0.9882 (Deleterious) |
| Deleterious probability by DeFine | 0.8492 (Deleterious) |
| Entrez Gene ID | 4622 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MYH4 (GeneCards) |
| Number of variants in MYH4 in this database | 1 (view all the variants) |
| Full name | myosin heavy chain 4 |
| Band | 17p13.1 |
| Other IDs | Vega: OTTHUMG00000130365 OMIM: 160742 HGNC: HGNC:7574 Ensembl: ENSG00000264424 |
| Other names | MYH2B, MyHC-2B, MyHC-IIb |
| Summary | None |
| Individual ID | 28503910.215 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Mother |
| Phenotype | 2 |
| Number of affected children | 1 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |