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Variant (rsID / SNP)

rs121909227

PTEN

rs121909227 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTEN. Location: chromosome 10, position 89,717,615. Clinical significance in the table: Pathogenic.

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Reference-table entries

PTENPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
10:89717615
Cytoband
10q23.31
HGVS
NM_000314.8(PTEN):c.640C>T (p.Gln214Ter)
Allele change
Nonsense_Q387X

Associated conditions / phenotypes

Cowden syndrome 1|Macrocephaly-autism syndrome|Inborn genetic diseases|Hereditary cancer-predisposing syndrome|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.