| Variant ID | 29461 |
|---|---|
| Entrez Gene ID | 4208 |
| Gene | MEF2C (GeneCards) |
| Location | hg19 5:88018537-88018537
hg38 5:88722720-88722720 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000005.9:g.88018537 G>C (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 | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.784 |
| CADD Raw score (version 1.3) | 5.786982 (Deleterious) |
| FATHMM raw prediction score | 0.98049 (Tolerated) |
| SIFT score | 0.002 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.74 (Deleterious) |
| PROVEAN score | -4.29 (Deleterious) |
| MetaSVM score | 0.608 (Deleterious) |
| MetaLR score | 0.761 (Deleterious) |
| MCAP score | 0.28 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.69 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.419 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.421 |
| Deleterious probability by iFish2 | 0.5888 (Deleterious) |
| Deleterious probability by DeFine | 0.9739 (Deleterious) |
| Entrez Gene ID | 4208 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MEF2C (GeneCards) |
| Number of variants in MEF2C in this database | 4 (view all the variants) |
| Full name | myocyte enhancer factor 2C |
| Band | 5q14.3 |
| Other IDs | Vega: OTTHUMG00000162634 OMIM: 600662 HGNC: HGNC:6996 Ensembl: ENSG00000081189 |
| Other names | DEL5q14.3, C5DELq14.3 |
| Summary | This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activating and DNA binding activities. This protein may play a role in maintaining the differentiated state of muscle cells. Mutations and deletions at this locus have been associated with severe cognitive disability, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010] |
| Individual ID | 28714951.137 (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; |