Annotation Detail
Information
- Associated Genes
- PIK3CA
- Associated Variants
-
PIK3CA p.Asn345Lys (p.N345K)
(
ENST00000263967.4,
ENST00000643187.1 )
PIK3CA p.Asn345Lys (p.N345K) ( ENST00000263967.4, ENST00000643187.1 ) - Associated Disease
- Congenital macrodactylia CLAPO syndrome seborrheic keratosis CLOVES syndrome Cowden syndrome 5 hepatocellular carcinoma Neoplasm of ovary epidermal nevus Gastric cancer lung cancer colorectal cancer Familial cancer of breast Megalencephaly-capillary malformation-polymicrogyria syndrome
- Source Database
- ClinVar
- Description
- NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) AND multiple conditions
- ClinVar Allele ID
- 362929
- ClinVar RefSeq Alternation Syntax
- NM_006218.4:c.1035T>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-03-23
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002502454
- ClinVar Disease
- Lung cancer
- ClinVar Disease
- Colorectal cancer
- ClinVar Disease
- Familial cancer of breast
- ClinVar Disease
- Hepatocellular 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
- ClinVar Disease
- Gastric cancer
- Observed Origin Sample
- unknown
Drugs