| Variant ID | 29593 |
|---|---|
| Entrez Gene ID | 93649 |
| Gene | MYOCD (GeneCards) |
| Location | hg19 17:12620732-12620732
hg38 17:12717415-12717415 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000017.10:g.12620732 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 | 81195210 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7523 |
| CADD Raw score (version 1.3) | 5.588756 (Deleterious) |
| FATHMM raw prediction score | 0.89819 (Tolerated) |
| SIFT score | 0.003 (Deleterious) |
| LRT score | 0.122 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.84 (Deleterious) |
| PROVEAN score | -3.29 (Deleterious) |
| MetaSVM score | -0.25 (Tolerated) |
| MetaLR score | 0.398 (Tolerated) |
| MCAP score | 0.031 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.62 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.638 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 5.76 |
| Deleterious probability by iFish2 | 0.9079 (Deleterious) |
| Deleterious probability by DeFine | 0.9228 (Deleterious) |
| Entrez Gene ID | 93649 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MYOCD (GeneCards) |
| Number of variants in MYOCD in this database | 3 (view all the variants) |
| Full name | myocardin |
| Band | 17p12 |
| Other IDs | Vega: OTTHUMG00000058767 OMIM: 606127 HGNC: HGNC:16067 Ensembl: ENSG00000141052 |
| Other names | MYCD |
| Summary | This gene encodes a nuclear protein, which is expressed in heart, aorta, and in smooth muscle cell-containing tissues. It functions as a transcriptional co-activator of serum response factor (SRF) and modulates expression of cardiac and smooth muscle-specific SRF-target genes, and thus may play a crucial role in cardiogenesis and differentiation of the smooth muscle cell lineage. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] |
| Individual ID | 28714951.269 (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; |