Annotation Detail
Information
- Associated Genes
- PIK3CA
- Associated Variants
-
PIK3CA p.Glu542Lys (p.E542K)
(
ENST00000643187.1,
ENST00000263967.4 )
PIK3CA p.Glu542Lys (p.E542K) ( ENST00000263967.4, ENST00000643187.1 ) - Associated Disease
- Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
- Source Database
- ClinVar
- Description
- NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) AND Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
- ClinVar Allele ID
- 40609
- ClinVar RefSeq Alternation Syntax
- NM_006218.4:c.1624G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-02-12
- Clinical Significance Review Status
- reviewed by expert panel
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001836714
- ClinVar Disease
- Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
- Observed Origin Sample
- germline
Drugs