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Variant (rsID / SNP)

rs121913293

PTEN

rs121913293 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTEN. Location: chromosome 10, position 89,711,899. 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
10:89711899
Cytoband
10q23.31
HGVS
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys)
Allele change
Missense_R346C

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Neoplasm of brain|PTEN hamartoma tumor syndrome|7 conditions|Cowden syndrome 1|Macrocephaly-autism syndrome|VACTERL with hydrocephalus|Cowden syndrome 1|Neurodevelopmental delay

Public references

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