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Gene entry

RB1

RB transcriptional corepressor 1

Chromosome
13
Cytoband
13q14.2
Variants (rsID)
126

RB1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 13 (region 13q14.2). Its official name is “RB transcriptional corepressor 1”. The reference table lists 126 variants (rsID) for this gene.

Clinically classified variants

102 reference-table entries with clinical significance.

  • rs144668210Benignsingle nucleotide variantRetinoblastoma|Hereditary cancer-predisposing syndrome
  • rs148992508Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Retinoblastoma
  • rs187912365Benignsingle nucleotide variantRetinoblastoma|Hereditary cancer-predisposing syndrome
  • rs4151539Benignsingle nucleotide variantRetinoblastoma|Hereditary cancer-predisposing syndrome
  • rs9535023Benignsingle nucleotide variantRetinoblastoma|Hereditary cancer-predisposing syndrome
  • rs142509759Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Retinoblastoma|Malignant tumor of urinary bladder
  • rs143105337Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Retinoblastoma
  • rs149359120Conflicting interpretationssingle nucleotide variantRetinoblastoma|Hereditary cancer-predisposing syndrome|B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
  • rs201258424Conflicting interpretationssingle nucleotide variantRetinoblastoma|Hereditary cancer-predisposing syndrome
  • rs3092902Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Retinoblastoma
  • rs1064795438Likely pathogenicMicrosatellite
  • rs121913295Likely pathogenicsingle nucleotide variantSmall cell lung carcinoma
  • rs587778871Likely pathogenicsingle nucleotide variantRetinoblastoma
  • rs1060503067Pathogenicsingle nucleotide variantRetinoblastoma
  • rs1060503074Pathogenicsingle nucleotide variantRetinoblastoma
  • rs1060503075PathogenicDeletionRetinoblastoma
  • rs1060503077Pathogenicsingle nucleotide variantRetinoblastoma
  • rs1060503079Pathogenicsingle nucleotide variantRetinoblastoma|Hereditary cancer-predisposing syndrome
  • rs1060503087Pathogenicsingle nucleotide variantRetinoblastoma
  • rs1060503088Pathogenicsingle nucleotide variantRetinoblastoma
  • rs1064795296PathogenicDeletion
  • rs121913296Pathogenicsingle nucleotide variantRetinoblastoma|Neoplasm
  • rs121913297Pathogenicsingle nucleotide variantSmall cell lung carcinoma|Neoplasm|Retinoblastoma
  • rs121913298Pathogenicsingle nucleotide variantRetinoblastoma
  • rs121913300Pathogenicsingle nucleotide variantRetinoblastoma|Hereditary cancer-predisposing syndrome
  • rs121913301Pathogenicsingle nucleotide variantRetinoblastoma|Hereditary cancer-predisposing syndrome
  • rs121913302Pathogenicsingle nucleotide variantRetinoblastoma|Hereditary cancer-predisposing syndrome
  • rs121913303Pathogenicsingle nucleotide variantRetinoblastoma|Hereditary cancer-predisposing syndrome
  • rs121913304Pathogenicsingle nucleotide variantTrilateral retinoblastoma|Retinoblastoma|Neoplasm|Hereditary cancer-predisposing syndrome
  • rs121913305Pathogenicsingle nucleotide variantRetinoblastoma|Hereditary cancer-predisposing syndrome
  • rs1258442224Pathogenicsingle nucleotide variantRetinoblastoma
  • rs137853292Pathogenicsingle nucleotide variantRetinoblastoma
  • rs137853293Pathogenicsingle nucleotide variantRetinoblastoma|Hereditary cancer-predisposing syndrome
  • rs137853295Pathogenicsingle nucleotide variantRetinoblastoma
  • rs137853296Pathogenicsingle nucleotide variantRetinoblastoma|Hereditary cancer-predisposing syndrome
  • rs137853297Pathogenicsingle nucleotide variantRetinoblastoma
  • rs1461382798Pathogenicsingle nucleotide variantRetinoblastoma
  • rs3092891Pathogenicsingle nucleotide variantRetinoblastoma|Hereditary cancer-predisposing syndrome
  • rs376886420Pathogenicsingle nucleotide variantRetinoblastoma
  • rs387906520Pathogenicsingle nucleotide variantRetinoblastoma
  • rs387906521Pathogenicsingle nucleotide variantRetinoblastoma|Hereditary cancer-predisposing syndrome
  • rs483352690Pathogenicsingle nucleotide variantRetinoblastoma
  • rs587776780Pathogenicsingle nucleotide variantRetinoblastoma
  • rs587776781PathogenicDeletionRetinoblastoma
  • rs587776783Pathogenicsingle nucleotide variantRetinoblastoma|Hereditary cancer-predisposing syndrome|Malignant tumor of urinary bladder|Retinoblastoma|Small cell lung carcinoma|Bone osteosarcoma
  • rs587776786Pathogenicsingle nucleotide variantRetinoblastoma
  • rs587776787Pathogenicsingle nucleotide variantRetinoblastoma
  • rs587776788PathogenicMicrosatelliteRetinoblastoma|Hereditary cancer-predisposing syndrome
  • rs587776789Pathogenicsingle nucleotide variantRetinoblastoma|Hereditary cancer-predisposing syndrome
  • rs587776791Pathogenicsingle nucleotide variantRetinoblastoma
  • rs587778825PathogenicDeletionRetinoblastoma
  • rs587778827PathogenicDeletionRetinoblastoma
  • rs587778828PathogenicDuplicationRetinoblastoma
  • rs587778829PathogenicMicrosatelliteRetinoblastoma|Hereditary cancer-predisposing syndrome
  • rs587778830PathogenicDuplicationRetinoblastoma
  • rs587778831Pathogenicsingle nucleotide variantRetinoblastoma
  • rs587778832PathogenicDeletionRetinoblastoma
  • rs587778833Pathogenicsingle nucleotide variantRetinoblastoma
  • rs587778835Pathogenicsingle nucleotide variantRetinoblastoma
  • rs587778836PathogenicDuplicationRetinoblastoma
  • rs587778837PathogenicDeletionRetinoblastoma
  • rs587778838Pathogenicsingle nucleotide variantRetinoblastoma
  • rs587778839Pathogenicsingle nucleotide variantRetinoblastoma|Malignant tumor of urinary bladder
  • rs587778840PathogenicDeletionRetinoblastoma
  • rs587778843Pathogenicsingle nucleotide variantRetinoblastoma
  • rs587778844PathogenicDeletionRetinoblastoma|Hereditary cancer-predisposing syndrome
  • rs587778845Pathogenicsingle nucleotide variantRetinoblastoma
  • rs587778846Pathogenicsingle nucleotide variantRetinoblastoma
  • rs587778847Pathogenicsingle nucleotide variantRetinoblastoma
  • rs587778850Pathogenicsingle nucleotide variantRetinoblastoma
  • rs587778851PathogenicDuplicationRetinoblastoma
  • rs587778854PathogenicDuplicationRetinoblastoma
  • rs587778855Pathogenicsingle nucleotide variantRetinoblastoma
  • rs587778857Pathogenicsingle nucleotide variantRetinoblastoma
  • rs587778858Pathogenicsingle nucleotide variantRetinoblastoma
  • rs587778859Pathogenicsingle nucleotide variantRetinoblastoma
  • rs587778860Pathogenicsingle nucleotide variantRetinoblastoma
  • rs587778861Pathogenicsingle nucleotide variantRetinoblastoma
  • rs587778863Pathogenicsingle nucleotide variantRetinoblastoma
  • rs587778864Pathogenicsingle nucleotide variantRetinoblastoma
  • rs587778865Pathogenicsingle nucleotide variantRetinoblastoma
  • rs587778866Pathogenicsingle nucleotide variantRetinoblastoma
  • rs587778867Pathogenicsingle nucleotide variantRetinoblastoma
  • rs587778868Pathogenicsingle nucleotide variantRetinoblastoma
  • rs587778869Pathogenicsingle nucleotide variantRetinoblastoma
  • rs587778870Pathogenicsingle nucleotide variantRetinoblastoma
  • rs587781257PathogenicDeletionRetinoblastoma
  • rs727504120PathogenicDeletion
  • rs727504121PathogenicDeletionRetinoblastoma
  • rs764754259Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs794727199Pathogenicsingle nucleotide variantRetinoblastoma
  • rs794727372Pathogenicsingle nucleotide variant
  • rs794727481Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Retinoblastoma
  • rs878853947Pathogenicsingle nucleotide variantRetinoblastoma
  • rs878853949Pathogenicsingle nucleotide variantRetinoblastoma|Hereditary cancer-predisposing syndrome
  • rs886042357PathogenicDeletionRetinoblastoma
  • rs886042935Pathogenicsingle nucleotide variant
  • rs886043247Pathogenicsingle nucleotide variantRetinoblastoma
  • rs886043313PathogenicDeletion
  • rs483352689Uncertain significancesingle nucleotide variantRetinoblastoma
  • rs587778834Uncertain significancesingle nucleotide variantRetinoblastoma
  • rs587778848Uncertain significancesingle nucleotide variantRetinoblastoma

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.