Annotation Detail
Information
- Associated Genes
- PIK3CA
- Associated Variants
-
PIK3CA p.Glu135Lys (p.E135K)
(
ENST00000263967.4,
ENST00000643187.1 )
PIK3CA p.Glu135Lys (p.E135K) ( ENST00000263967.4, ENST00000643187.1 ) - Associated Disease
- Cowden syndrome 5
- Source Database
- ClinVar
- Description
- NM_006218.4(PIK3CA):c.403G>A (p.Glu135Lys) AND Cowden syndrome 5
- Pubmed
- 23246288
- Observed Origin Sample
- germline
- ClinVar Allele ID
- 166219
- ClinVar RefSeq Alternation Syntax
- NM_006218.4:c.403G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2013-01-10
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000144507
- ClinVar Disease
- Cowden syndrome 5
Drugs