Variant (rsID / SNP)

rs483352689

rs483352689 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RB1. Location: chromosome 13, position 49,033,857. Clinical significance in the table: Uncertain significance.

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Reference-table entries

RB1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 13:49033857
Cytoband: 13q14.2
HGVS: NM_000321.3(RB1):c.1994T>G (p.Leu665Arg)
Allele change: Missense_L665R

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.