NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys) AND Abnormal cardiovascular system morphology
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001327958.1
Allele description [Variation Report for NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys)]
NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys)
Condition(s)
- Name:
- Abnormal cardiovascular system morphology
- Synonyms:
- Abnormality of cardiovascular system morphology
- Identifiers:
- MedGen: C4049796; Human Phenotype Ontology: HP:0030680
Assertion and evidence details
Last Updated: Sep 29, 2024