Variant (rsID / SNP)
rs878853936
rs878853936 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTEN. Location: chromosome 10, position 89,685,300. Clinical significance in the table: Pathogenic.
Reference-table entries
PTENPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:89685300
- Cytoband
- 10q23.31
- HGVS
- NM_000314.8(PTEN):c.195C>G (p.Tyr65Ter)
- Allele change
- Nonsense_Y238X
Associated conditions / phenotypes
PTEN hamartoma tumor syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.