Variant (rsID / SNP)
rs587778695
rs587778695 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STK11. Location: chromosome 19, position 1,223,151. 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
- 19:1223151
- Cytoband
- 19p13.3
- HGVS
- NM_000455.5(STK11):c.1088C>T (p.Thr363Ile)
- Allele change
- Missense_T363I
Associated conditions / phenotypes
Peutz-Jeghers syndrome|Hereditary cancer-predisposing syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
