Variant (rsID / SNP)

rs113613074

rs113613074 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIK3CA. Location: chromosome 3, position 178,922,361. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PIK3CAUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:178922361
Cytoband: 3q26.32
HGVS: NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg)
Allele change: Missense_P377R

Associated conditions / phenotypes

Cowden syndrome|13 conditions

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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