Annotation Detail
Information
- Associated Genes
- PIK3CA
- Associated Variants
-
PIK3CA p.Arg108His (p.R108H)
(
ENST00000263967.4,
ENST00000643187.1 )
PIK3CA p.Arg108His (p.R108H) ( ENST00000263967.4, ENST00000643187.1 ) - Associated Disease
- Megalencephaly-capillary malformation-polymicrogyria syndrome
- Source Database
- ClinVar
- Description
- NM_006218.4(PIK3CA):c.323G>A (p.Arg108His) AND Megalencephaly-capillary malformation-polymicrogyria syndrome
- ClinVar Allele ID
- 264121
- ClinVar RefSeq Alternation Syntax
- NM_006218.4:c.323G>A
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2023-01-13
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001353357
- ClinVar Disease
- Megalencephaly-capillary malformation-polymicrogyria syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs