Variant (rsID / SNP)
rs200078204
rs200078204 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STK11. Location: chromosome 19, position 1,226,555. 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
- 19:1226555
- Cytoband
- 19p13.3
- HGVS
- NM_000455.5(STK11):c.1211C>T (p.Ser404Phe)
- Allele change
- Missense_S404F
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Peutz-Jeghers syndrome|Malignant tumor of breast|Melanoma, cutaneous malignant, susceptibility to, 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.