Variant (rsID / SNP)
rs372511774
rs372511774 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STK11. Location: chromosome 19, position 1,218,482. 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
- 19:1218482
- Cytoband
- 19p13.3
- HGVS
- NM_000455.5(STK11):c.357C>T (p.Asn119=)
- Allele change
- Synonymous_N119N
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome|Peutz-Jeghers syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
