Variant (rsID / SNP)
rs483352690
rs483352690 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RB1. Location: chromosome 13, position 49,030,485. Clinical significance in the table: Pathogenic.
Reference-table entries
RB1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:49030485
- Cytoband
- 13q14.2
- HGVS
- NM_000321.3(RB1):c.1960G>A (p.Val654Met)
- Allele change
- Missense_V654M
Associated conditions / phenotypes
Retinoblastoma
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.