Annotation Detail
Information
- Associated Genes
- PIK3CA
- Associated Variants
-
PIK3CA p.Gln546Lys (p.Q546K)
(
ENST00000263967.4,
ENST00000643187.1 )
PIK3CA p.Gln546Lys (p.Q546K) ( ENST00000263967.4, ENST00000643187.1 ) - Source Database
- ClinVar
- Description
- NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) AND Segmental undergrowth associated with mainly venous malformation with capillary component
- ClinVar Allele ID
- 28696
- ClinVar RefSeq Alternation Syntax
- NM_006218.4:c.1636C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-04-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001705592
- Observed Origin Sample
- somatic
Drugs