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Variant (rsID / SNP)

rs1224040268

PTEN

rs1224040268 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTEN. Location: chromosome 10, position 89,690,848. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PTENPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
10:89690848
Cytoband
10q23.31
HGVS
NM_000314.8(PTEN):c.253+2T>A
Allele change
Silent

Associated conditions / phenotypes

PTEN hamartoma tumor syndrome|7 conditions

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.