| Variant ID | 29929 |
|---|---|
| Entrez Gene ID | 79784 |
| Gene | MYH14 (GeneCards) |
| Location | hg19 19:50783305-50783305
hg38 19:50280048-50280048 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000019.9:g.50783305 G>T (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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.9057 |
| CADD Raw score (version 1.3) | 1.268298 (Deleterious) |
| FATHMM raw prediction score | 0.15208 (Tolerated) |
| SIFT score | 0.547 (Tolerated) |
| MutationTaster score | 0.996 (Deleterious) |
| MutatioinAssessor score | 0.28 (Tolerated) |
| PROVEAN score | -0.33 (Tolerated) |
| MetaSVM score | -0.824 (Tolerated) |
| MetaLR score | 0.276 (Tolerated) |
| MCAP score | 0.053 (Deleterious) |
| FitCons score | 0.745 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 0.994 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.007 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.71 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 1.853 |
| Deleterious probability by iFish2 | 0.4875 (Neutral) |
| Deleterious probability by DeFine | 0.7592 (Deleterious) |
| Entrez Gene ID | 79784 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MYH14 (GeneCards) |
| Number of variants in MYH14 in this database | 4 (view all the variants) |
| Full name | myosin heavy chain 14 |
| Band | 19q13.33 |
| Other IDs | Vega: OTTHUMG00000183034 OMIM: 608568 HGNC: HGNC:23212 Ensembl: ENSG00000105357 |
| Other names | DFNA4, MHC16, MYH17, PNMHH, DFNA4A, myosin, FP17425, NMHCII-C, NMHC-II-C |
| Summary | This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-14 (MYO14). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene result in one form of autosomal dominant hearing impairment. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] |
| Individual ID | 28867142.23 (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; |