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Variant (rsID / SNP)

rs547919101

STK11

rs547919101 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STK11. Location: chromosome 19, position 1,226,511. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

STK11Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:1226511
Cytoband
19p13.3
HGVS
NM_000455.5(STK11):c.1167C>G (p.Ala389=)
Allele change
Synonymous_A389A

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.