Variant (rsID / SNP)
rs886041877
rs886041877 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTEN. Location: chromosome 10, position 89,653,782. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PTENConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 10:89653782
- Cytoband
- 10q23.31
- HGVS
- NM_000314.8(PTEN):c.80A>C (p.Tyr27Ser)
- Allele change
- Missense_Y200S
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.
