Annotation Detail
Information
- Associated Genes
- PIK3CA
- Associated Variants
-
PIK3CA p.Met1043Ile (p.M1043I)
(
ENST00000643187.1,
ENST00000263967.4 )
PIK3CA p.Met1043Ile (p.M1043I) ( ENST00000263967.4, ENST00000643187.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_006218.4(PIK3CA):c.3129G>T (p.Met1043Ile) AND not provided
- ClinVar Allele ID
- 213942
- ClinVar RefSeq Alternation Syntax
- NM_006218.4:c.3129G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-08-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003320599
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs