Variant (rsID / SNP)
rs1057524439
rs1057524439 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STK11. Location: chromosome 19, position 1,221,954. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
STK11Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:1221954
- Cytoband
- 19p13.3
- HGVS
- NM_000455.5(STK11):c.869T>C (p.Leu290Pro)
- Allele change
- Missense_L290P
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.