Variant (rsID / SNP)

rs398123330

rs398123330 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTEN. Location: chromosome 10, position 89,720,805. Clinical significance in the table: Pathogenic.

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Reference-table entries

PTENPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 10:89720805
Cytoband: 10q23.31
HGVS: NM_000314.8(PTEN):c.956_959del (p.Thr319fs)

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|PTEN hamartoma tumor 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.