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Variant (rsID / SNP)

rs375709098

PTEN

rs375709098 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTEN. Location: chromosome 10, position 89,725,078. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PTENUncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
10:89725078
Cytoband
10q23.31
HGVS
NM_000314.8(PTEN):c.1061C>T (p.Pro354Leu)
Allele change
Missense_P527L

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|PTEN hamartoma tumor syndrome|Cowden syndrome 1

Public references

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