Variant (rsID / SNP)

rs1057518830

rs1057518830 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STK11. Location: chromosome 19, position 1,221,330. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

STK11Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: Microsatellite
Chromosome / position: 19:1221330
Cytoband: 19p13.3
HGVS: NM_000455.5(STK11):c.853CTG[1] (p.Leu286del)

Associated conditions / phenotypes

Intestinal polyposis|Periorbital hyperpigmentation

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.