| Variant ID | 1530 |
|---|---|
| Entrez Gene ID | 6229 |
| Gene | RPS24 (GeneCards) |
| Location | hg19 10:79795355-79795355
hg38 10:78035597-78035597 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000010.10:g.79795355_79795355 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_033022.3 |
| mRNA length | 671 |
| Reference length | 135534747 |
| Deleterious probability by DeFine | 0.9624 (Deleterious) |
|---|
| Entrez Gene ID | 6229 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RPS24 (GeneCards) |
| Number of variants in RPS24 in this database | 3 (view all the variants) |
| Full name | ribosomal protein S24 |
| Band | 10q22.3 |
| Other IDs | Vega: OTTHUMG00000018549 OMIM: 602412 HGNC: HGNC:10411 Ensembl: ENSG00000138326 |
| Other names | S24, DBA3, eS24 |
| Summary | Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S24E family of ribosomal proteins. It is located in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Mutations in this gene result in Diamond-Blackfan anemia. [provided by RefSeq, Nov 2008] |
| Individual ID | 28867142.35 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male 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; |