Variant (rsID / SNP)

rs4151539

rs4151539 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RB1. Location: chromosome 13, position 48,955,458. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

RB1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 13:48955458
Cytoband: 13q14.2
HGVS: NM_000321.3(RB1):c.1574C>G (p.Ala525Gly)
Allele change: Missense_A525G

Associated conditions / phenotypes

Retinoblastoma|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.