Annotation Detail
Information
- Associated Genes
- PIK3CA
- Associated Variants
-
PIK3CA p.His1047Arg (p.H1047R)
(
ENST00000263967.4,
ENST00000643187.1 )
PIK3CA p.His1047Arg (p.H1047R) ( ENST00000263967.4, ENST00000643187.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) AND not provided
- ClinVar Allele ID
- 28691
- ClinVar RefSeq Alternation Syntax
- NM_006218.4:c.3140A>G
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2022-08-03
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001092442
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
- Observed Origin Sample
- somatic
Drugs