Variant (rsID / SNP)

rs397518440

rs397518440 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STK11. Location: chromosome 19, position 1,219,366. Clinical significance in the table: Pathogenic.

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Reference-table entries

STK11Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 19:1219366
Cytoband: 19p13.3
HGVS: NM_000455.5(STK11):c.418del (p.Leu140fs)

Associated conditions / phenotypes

Peutz-Jeghers syndrome|Hereditary cancer-predisposing syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.