Variant (rsID / SNP)

rs587781354

rs587781354 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTEN. Location: chromosome 10, position 89,717,747. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PTENPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 10:89717747
Cytoband: 10q23.31
HGVS: NM_000314.8(PTEN):c.772_773del (p.Phe258fs)

Associated conditions / phenotypes

Hereditary cancer-predisposing 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.