Annotation Detail
Information
- Associated Genes
- PIK3CA
- Associated Variants
-
PIK3CA p.Glu545Ala (p.E545A)
(
ENST00000263967.4,
ENST00000643187.1 )
PIK3CA p.Glu545Ala (p.E545A) ( ENST00000263967.4, ENST00000643187.1 ) - Associated Disease
- Malignant melanoma of skin
- Source Database
- ClinVar
- Description
- NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) AND Malignant melanoma of skin
- ClinVar Allele ID
- 28698
- ClinVar RefSeq Alternation Syntax
- NM_006218.4:c.1634A>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2016-05-31
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000420659
- ClinVar Disease
- Malignant melanoma of skin
- Observed Origin Sample
- somatic
Drugs