Variant (rsID / SNP)

rs1114167625

rs1114167625 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTEN. Location: chromosome 10, position 89,624,263. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PTENUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: Deletion
Chromosome / position: 10:89624263
Cytoband: 10q23.31
HGVS: NM_000314.8(PTEN):c.39_41del (p.Arg15del)

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.