Variant (rsID / SNP)
rs199681533
rs199681533 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STK11. Location: chromosome 19, position 1,221,979. 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
- 19:1221979
- Cytoband
- 19p13.3
- HGVS
- NM_000455.5(STK11):c.894C>A (p.Phe298Leu)
- Allele change
- Missense_F298L
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Peutz-Jeghers syndrome|Carcinoma of pancreas
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
