Annotation Detail
Information
- Associated Genes
- PIK3CA
- Associated Variants
-
PIK3CA p.Thr1025Ala (p.T1025A)
(
ENST00000263967.4,
ENST00000643187.1 )
PIK3CA p.Thr1025Ala (p.T1025A) ( ENST00000263967.4, ENST00000643187.1 ) - Associated Disease
- PIK3CA related overgrowth syndrome
- Source Database
- ClinVar
- Description
- NM_006218.4(PIK3CA):c.3073A>G (p.Thr1025Ala) AND PIK3CA related overgrowth syndrome
- ClinVar Allele ID
- 54634
- ClinVar RefSeq Alternation Syntax
- NM_006218.4:c.3073A>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-09-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003458194
- ClinVar Disease
- PIK3CA related overgrowth syndrome
- Observed Origin Sample
- somatic
Drugs