Variant (rsID / SNP)

rs878853947

rs878853947 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RB1. Location: chromosome 13, position 48,947,567. 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: 13:48947567
Cytoband: 13q14.2
HGVS: NM_000321.3(RB1):c.1154T>G (p.Leu385Ter)
Allele change: Nonsense_L385X

Associated conditions / phenotypes

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.