| Variant ID | 27760 |
|---|---|
| Entrez Gene ID | 5925 |
| Gene | RB1 (GeneCards) |
| Location | hg19 13:48979918-48979918
hg38 13:48405782-48405782 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000013.10:g.48979918 C>T (Genome Assembly: GRCh37) |
| 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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2781 |
| CADD Raw score (version 1.3) | -0.103926 (Deleterious) |
| FATHMM raw prediction score | 0.08222 (Tolerated) |
| Deleterious probability by DeFine | 0.1916 (Neutral) |
| Entrez Gene ID | 5925 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RB1 (GeneCards) |
| Number of variants in RB1 in this database | 10 (view all the variants) |
| Full name | RB transcriptional corepressor 1 |
| Band | 13q14.2 |
| Other IDs | Vega: OTTHUMG00000016900 OMIM: 614041 HGNC: HGNC:9884 Ensembl: ENSG00000139687 |
| Other names | RB, pRb, OSRC, pp110, p105-Rb, PPP1R130 |
| Summary | The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217587.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |