| Variant ID | 29616 |
|---|---|
| Entrez Gene ID | 23645 |
| Gene | PPP1R15A (GeneCards) |
| Location | hg19 19:49376940-49376940
hg38 19:48873683-48873683 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000019.9:g.49376940 A>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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.622 |
| CADD Raw score (version 1.3) | -1.588761 (Deleterious) |
| FATHMM raw prediction score | 0.13731 (Tolerated) |
| Deleterious probability by DeFine | 0.6772 (Deleterious) |
| Entrez Gene ID | 23645 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PPP1R15A (GeneCards) |
| Number of variants in PPP1R15A in this database | 1 (view all the variants) |
| Full name | protein phosphatase 1 regulatory subunit 15A |
| Band | 19q13.33 |
| Other IDs | Vega: OTTHUMG00000183330 OMIM: 611048 HGNC: HGNC:14375 Ensembl: ENSG00000087074 |
| Other names | GADD34 |
| Summary | This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The induction of this gene by ionizing radiation occurs in certain cell lines regardless of p53 status, and its protein response is correlated with apoptosis following ionizing radiation. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.292 (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; |