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
- epidermal nevus CLOVES syndrome Neoplasm of ovary Neoplasm of stomach hepatocellular carcinoma Congenital macrodactylia Familial cancer of breast Carcinoma of colon seborrheic keratosis Megalencephaly-capillary malformation-polymicrogyria syndrome Cowden syndrome 5 lung carcinoma CLAPO syndrome
- Source Database
- ClinVar
- Description
- NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) AND multiple conditions
- ClinVar Allele ID
- 48304
- ClinVar RefSeq Alternation Syntax
- NM_006218.4:c.3139C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2018-10-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000763508
- ClinVar Disease
- Carcinoma of colon
- ClinVar Disease
- Neoplasm of stomach
- ClinVar Disease
- Familial cancer of breast
- ClinVar Disease
- Hepatocellular carcinoma
- ClinVar Disease
- Lung carcinoma
- ClinVar Disease
- Epidermal nevus
- ClinVar Disease
- CLOVES syndrome
- ClinVar Disease
- Cowden syndrome 5
- ClinVar Disease
- Congenital macrodactylia
- ClinVar Disease
- Seborrheic keratosis
- ClinVar Disease
- Neoplasm of ovary
- ClinVar Disease
- CLAPO syndrome
- ClinVar Disease
- Megalencephaly-capillary malformation-polymicrogyria syndrome
- Observed Origin Sample
- unknown
Drugs