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Variant (rsID / SNP)

rs148992508

RB1

rs148992508 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RB1. Location: chromosome 13, position 48,934,173. 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
13:48934173
Cytoband
13q14.2
HGVS
NM_000321.3(RB1):c.628G>T (p.Asp210Tyr)
Allele change
Missense_D210Y

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Retinoblastoma

Public references

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