Annotation Detail
Information
- Associated Genes
- PIK3CA
- Associated Variants
-
PIK3CA p.Gly914Arg (p.G914R)
(
ENST00000263967.4,
ENST00000643187.1 )
PIK3CA p.Gly914Arg (p.G914R) ( ENST00000263967.4, ENST00000643187.1 ) - Associated Disease
- Cowden syndrome 5
- Source Database
- ClinVar
- Description
- NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) AND Cowden syndrome 5
- ClinVar Allele ID
- 48302
- ClinVar RefSeq Alternation Syntax
- NM_006218.4:c.2740G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2020-12-20
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001594376
- ClinVar Disease
- Cowden syndrome 5
- Observed Origin Sample
- de novo
Drugs