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Variant (rsID / SNP)

rs867262025

PIK3CA

rs867262025 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIK3CA. Location: chromosome 3, position 178,938,934. Clinical significance in the table: Pathogenic.

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Reference-table entries

PIK3CAPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
3:178938934
Cytoband
3q26.32
HGVS
NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys)
Allele change
Missense_E726K

Associated conditions / phenotypes

Lung adenocarcinoma|Squamous cell lung carcinoma|Neoplasm of the large intestine|Transitional cell carcinoma of the bladder|Breast neoplasm|Brainstem glioma|Squamous cell carcinoma of the head and neck|Neoplasm of uterine cervix|Inborn genetic diseases|Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes|Cowden syndrome

Public references

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