Variant (rsID / SNP)
rs727504120
rs727504120 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RB1. Location: chromosome 13, position 48,878,102. Clinical significance in the table: Pathogenic.
Reference-table entries
RB1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 13:48878102
- Cytoband
- 13q14.2
- HGVS
- NM_000321.3(RB1):c.54_79del (p.Glu19fs)
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.