Variant (rsID / SNP)

rs121913304

rs121913304 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RB1. Location: chromosome 13, position 48,955,550. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

RB1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 13:48955550
Cytoband: 13q14.2
HGVS: NM_000321.3(RB1):c.1666C>T (p.Arg556Ter)
Allele change: Nonsense_R556X

Associated conditions / phenotypes

Trilateral retinoblastoma|Retinoblastoma|Neoplasm|Hereditary cancer-predisposing syndrome

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.