Variant (rsID / SNP)

rs730881979

rs730881979 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STK11. Location: chromosome 19, position 1,220,433. Clinical significance in the table: Pathogenic.

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Reference-table entries

STK11Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:1220433
Cytoband: 19p13.3
HGVS: NM_000455.5(STK11):c.526G>A (p.Asp176Asn)
Allele change: Missense_D176N

Associated conditions / phenotypes

Peutz-Jeghers 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.