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
- Megalencephaly-capillary malformation-polymicrogyria syndrome
- Source Database
- ClinVar
- Description
- NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) AND Megalencephaly-capillary malformation-polymicrogyria syndrome
- ClinVar Allele ID
- 28692
- ClinVar RefSeq Alternation Syntax
- NM_006218.4:c.3140A>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-11-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001253236
- ClinVar Disease
- Megalencephaly-capillary malformation-polymicrogyria syndrome
- Observed Origin Sample
- germline
Drugs