| Variant ID | 29851 |
|---|---|
| Entrez Gene ID | 1108 |
| Gene | CHD4 (GeneCards) |
| Location | hg19 12:6710567-6710567
hg38 12:6601401-6601401 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000012.11:g.6710567 C>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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4422 |
| CADD Raw score (version 1.3) | 0.660754 (Deleterious) |
| FATHMM raw prediction score | 0.14972 (Tolerated) |
| Deleterious probability by DeFine | 0.8901 (Deleterious) |
| Entrez Gene ID | 1108 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CHD4 (GeneCards) |
| Number of variants in CHD4 in this database | 1 (view all the variants) |
| Full name | chromodomain helicase DNA binding protein 4 |
| Band | 12p13.31 |
| Other IDs | Vega: OTTHUMG00000169164 OMIM: 603277 HGNC: HGNC:1919 Ensembl: ENSG00000111642 |
| Other names | CHD-4, Mi-2b, SIHIWES, Mi2-BETA |
| Summary | The product of this gene belongs to the SNF2/RAD54 helicase family. It represents the main component of the nucleosome remodeling and deacetylase complex and plays an important role in epigenetic transcriptional repression. Patients with dermatomyositis develop antibodies against this protein. Somatic mutations in this gene are associated with serous endometrial tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014] |
| Individual ID | 28867142.14 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female 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; |