Gene
RB1
RB transcriptional corepressor 1
- HGNC 9884(opens in a new tab)
- Ensembl gene ENSG00000139687(opens in a new tab)
- NCBI Gene 5925(opens in a new tab)
Summary
- Cytogenetic location
- 13q14.2
- Coordinates
- Chromosome 13: 48,303,751–48,481,890 (GRCh38)
- Exons
- 27 exons across 178.1 kb
- Protein
- 928 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- RB, PPP1R130
- Previous symbols
- OSRC
- MANE Select transcript
- ENST00000267163.6NM_000321.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Hereditary Retinoblastoma
- Autosomal dominant
Retinoblastoma due to a germline RB1 variant, typically bilateral or multifocal, with increased risk of second primary cancers.
- 3 GenCC submitters rate it definitive or strong
- On the ACMG secondary findings list
What knowing changes
Intra-arterial chemotherapy; intravitreous melphalan; systemic chemotherapy; enucleation for advanced cases; avoid radiation in confirmed germline RB1 carriers; lifetime second primary cancer surveillance (imaging, dermatology)
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How RB1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
- Variants with a page
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 4.8 kb of the gene's 178.1 kb; 2,787 of those bases code for the protein.
How a genome test reads RB1
687
positions in RB1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 178.1 kb of RB1, introns included, not only the 4.8 kb of exons.
Variants with a page (4)
The RB1 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| c.1215+1G>A | Intron 12 | 48,373,493 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1695+30911_1695+30912insCATG | Intron 17 | 48,412,354 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| R320X | c.958C>T | Exon 10 | 48,367,512 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R787X | c.2359C>T | Exon 23 | 48,465,238 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
Traits linked to RB1
The Human Phenotype Ontology lists these as features of the rare conditions RB1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Abnormally small head
- Prominent nasal bridge
- Wide nasal bridge
- Eye folds
- Little lower jaw
- Short neck
- Triangular head shape
- Webbed neck
Show 1 more trait
Abnormality of the eye
- Wide-set eyes
- Abnormally small eyeball
- Cat eye
- Clouding of the lens of the eye
- Drooping upper eyelid
- Retina tumor
- Vitritis
- Leukocoria
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). RB1 gene: RB transcriptional corepressor 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/rb1
Dante Labs. RB1 gene: RB transcriptional corepressor 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/rb1
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