Annotation Detail
Information
- Associated Genes
- PIK3CA
- Associated Variants
-
PIK3CA p.Cys420Arg (p.C420R)
(
ENST00000263967.4,
ENST00000643187.1 )
PIK3CA p.Cys420Arg (p.C420R) ( ENST00000263967.4, ENST00000643187.1 ) - Associated Disease
- CLAPO syndrome
- Source Database
- ClinVar
- Description
- NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) AND CLAPO syndrome
- ClinVar Allele ID
- 40610
- ClinVar RefSeq Alternation Syntax
- NM_006218.4:c.1258T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-10-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000709694
- ClinVar Disease
- CLAPO syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- somatic
- Observed Origin Sample
- unknown
- Pubmed
- 22658544
- Pubmed
- 29446767
Drugs