Annotation Detail
Information
- Associated Genes
- PIK3CA
- Associated Variants
-
PIK3CA p.Ile112Asn (p.I112N)
(
ENST00000263967.4,
ENST00000643187.1 )
PIK3CA p.Ile112Asn (p.I112N) ( ENST00000263967.4, ENST00000643187.1 ) - Associated Disease
- Megalencephaly-capillary malformation-polymicrogyria syndrome
- Source Database
- ClinVar
- Description
- NM_006218.4(PIK3CA):c.335T>A (p.Ile112Asn) AND Megalencephaly-capillary malformation-polymicrogyria syndrome
- ClinVar Allele ID
- 214867
- ClinVar RefSeq Alternation Syntax
- NM_006218.4:c.335T>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2015-10-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000202414
- ClinVar Disease
- Megalencephaly-capillary malformation-polymicrogyria syndrome
- Observed Origin Sample
- de novo
Drugs