Variant (rsID / SNP)
rs786202894
rs786202894 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTEN. Location: chromosome 10, position 89,653,832. Clinical significance in the table: Pathogenic.
Reference-table entries
PTENPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 10:89653832
- Cytoband
- 10q23.31
- HGVS
- NM_000314.8(PTEN):c.131_134dup (p.Tyr46fs)
Associated conditions / phenotypes
Hereditary cancer-predisposing syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.