Variant (rsID / SNP)

rs1057520042

rs1057520042 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STK11. Location: chromosome 19, position 1,222,987. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

STK11Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:1222987
Cytoband: 19p13.3
HGVS: NM_000455.5(STK11):c.924G>C (p.Trp308Cys)
Allele change: Missense_W308C

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.