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Variant (rsID / SNP)

rs201258424

RB1

rs201258424 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RB1. Location: chromosome 13, position 49,039,118. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RB1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
13:49039118
Cytoband
13q14.2
HGVS
NM_000321.3(RB1):c.2212-16T>A
Allele change
Silent

Associated conditions / phenotypes

Retinoblastoma|Hereditary cancer-predisposing syndrome

Public references

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