Variant (rsID / SNP)

rs794727481

rs794727481 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RB1. Location: chromosome 13, position 48,916,767. Clinical significance in the table: Pathogenic.

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Reference-table entries

RB1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 13:48916767
Cytoband: 13q14.2
HGVS: NM_000321.3(RB1):c.297G>A (p.Trp99Ter)
Allele change: Nonsense_W99X

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Retinoblastoma

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.