| Variant ID | 29261 |
|---|---|
| Entrez Gene ID | 25942 |
| Gene | SIN3A (GeneCards) |
| Location | hg19 15:75706487-75706487
hg38 15:75414146-75414146 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000015.9:g.75706487 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | Intron |
|---|---|
| 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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0407 |
| CADD Raw score (version 1.3) | 0.038625 (Deleterious) |
| FATHMM raw prediction score | 0.16786 (Tolerated) |
| Deleterious probability by DeFine | 0.6245 (Deleterious) |
| Entrez Gene ID | 25942 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SIN3A (GeneCards) |
| Number of variants in SIN3A in this database | 1 (view all the variants) |
| Full name | SIN3 transcription regulator family member A |
| Band | 15q24.2 |
| Other IDs | Vega: OTTHUMG00000142834 OMIM: 607776 HGNC: HGNC:19353 Ensembl: ENSG00000169375 |
| Other names | WITKOS |
| Summary | The protein encoded by this gene is a transcriptional regulatory protein. It contains paired amphipathic helix (PAH) domains, which are important for protein-protein interactions and may mediate repression by the Mad-Max complex. [provided by RefSeq, Jul 2008] |
| Individual ID | 28503910.138 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| 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; |