| Variant ID | 1492 |
|---|---|
| Entrez Gene ID | 27250 |
| Gene | PDCD4 (GeneCards) |
| Location | hg19 10:112647536-112647536
hg38 10:110887778-110887778 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000010.10:g.112647536_112647536 del (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 | NM_001199492.1 |
| mRNA length | 3602 |
| Reference length | 135534747 |
| Deleterious probability by DeFine | 0.9455 (Deleterious) |
|---|
| Entrez Gene ID | 27250 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PDCD4 (GeneCards) |
| Number of variants in PDCD4 in this database | 2 (view all the variants) |
| Full name | programmed cell death 4 |
| Band | 10q25.2 |
| Other IDs | Vega: OTTHUMG00000019048 OMIM: 608610 HGNC: HGNC:8763 Ensembl: ENSG00000150593 |
| Other names | H731 |
| Summary | This gene is a tumor suppressor and encodes a protein that binds to the eukaryotic translation initiation factor 4A1 and inhibits its function by preventing RNA binding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010] |
| Individual ID | 28867142.12 (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; |