Variant (rsID / SNP)
rs587776657
rs587776657 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STK11. Location: chromosome 19, position 1,220,700. Clinical significance in the table: Pathogenic.
Reference-table entries
STK11Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Deletion
- Chromosome / position
- 19:1220700
- Cytoband
- 19p13.3
- HGVS
- NM_000455.5(STK11):c.718_721del (p.Ser240fs)
Associated conditions / phenotypes
Peutz-Jeghers syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.