Variant (rsID / SNP)
rs587778861
rs587778861 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RB1. Location: chromosome 13, position 49,039,169. Clinical significance in the table: Pathogenic.
Reference-table entries
RB1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:49039169
- Cytoband
- 13q14.2
- HGVS
- NM_000321.3(RB1):c.2247T>A (p.Tyr749Ter)
- Allele change
- Nonsense_Y749X
Associated conditions / phenotypes
Retinoblastoma
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.