Annotation Detail
Information
- Associated Genes
- PIK3CA
- Associated Variants
-
PIK3CA p.His1047Tyr (p.H1047Y)
(
ENST00000263967.4,
ENST00000643187.1 )
PIK3CA p.His1047Tyr (p.H1047Y) ( ENST00000263967.4, ENST00000643187.1 ) - Associated Disease
- Megalencephaly-capillary malformation-polymicrogyria syndrome
- Source Database
- ClinVar
- Description
- NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND Megalencephaly-capillary malformation-polymicrogyria syndrome
- Observed Origin Sample
- somatic
- Observed Origin Sample
- unknown
- Pubmed
- 22729224
- Pubmed
- 37712948
- ClinVar Allele ID
- 48304
- ClinVar RefSeq Alternation Syntax
- NM_006218.4:c.3139C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-03-08
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000032909
- ClinVar Disease
- Megalencephaly-capillary malformation-polymicrogyria syndrome
Drugs