Variant (rsID / SNP)

rs786204900

rs786204900 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTEN. Location: chromosome 10, position 89,693,003. 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: 10:89693003
Cytoband: 10q23.31
HGVS: NM_000314.8(PTEN):c.491del (p.Lys164fs)

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|PTEN hamartoma tumor syndrome|PTEN hamartoma tumor syndromes|Cowden syndrome 1

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.