Variant (rsID / SNP)

rs587776669

rs587776669 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTEN. Location: chromosome 10, position 89,717,671. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PTENLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: Deletion
Chromosome / position: 10:89717671
Cytoband: 10q23.31
HGVS: NM_000314.8(PTEN):c.696del (p.Arg233fs)

Associated conditions / phenotypes

Cowden syndrome 1|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.