Annotation Detail
Information
- Associated Genes
- PIK3CA
- Associated Variants
-
PIK3CA p.Asp350Gly (p.D350G)
(
ENST00000263967.4,
ENST00000643187.1 )
PIK3CA p.Asp350Gly (p.D350G) ( ENST00000263967.4, ENST00000643187.1 ) - Associated Disease
- Inborn genetic diseases
- Source Database
- ClinVar
- Description
- NM_006218.4(PIK3CA):c.1049A>G (p.Asp350Gly) AND Inborn genetic diseases
- ClinVar Allele ID
- 511469
- ClinVar RefSeq Alternation Syntax
- NM_006218.4:c.1049A>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2016-10-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000622911
- ClinVar Disease
- Inborn genetic diseases
- Observed Origin Sample
- germline
Drugs