Annotation Detail
Information
- Associated Genes
- PIK3CA
- Associated Variants
-
PIK3CA p.His1047Leu (p.H1047L)
(
ENST00000263967.4,
ENST00000643187.1 )
PIK3CA p.His1047Leu (p.H1047L) ( ENST00000263967.4, ENST00000643187.1 ) - Associated Disease
- Cavernous lymphangioma
- Source Database
- ClinVar
- Description
- NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND Cavernous lymphangioma
- ClinVar Allele ID
- 28692
- ClinVar RefSeq Alternation Syntax
- NM_006218.4:c.3140A>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2024-03-19
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004527292
- ClinVar Disease
- Cavernous lymphangioma
- Observed Origin Sample
- somatic
Drugs