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Variant (rsID / SNP)

rs786204931

PTEN

rs786204931 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTEN. Location: chromosome 10, position 89,692,883. 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
10:89692883
Cytoband
10q23.31
HGVS
NM_000314.8(PTEN):c.367C>T (p.His123Tyr)
Allele change
Missense_H296Y

Associated conditions / phenotypes

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.