NM_006218.4(PIK3CA):c.3126A>G (p.Gln1042=) AND Cowden syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 5, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001068504.8
Allele description [Variation Report for NM_006218.4(PIK3CA):c.3126A>G (p.Gln1042=)]
NM_006218.4(PIK3CA):c.3126A>G (p.Gln1042=)
Condition(s)
- Name:
- Cowden syndrome (CS)
- Synonyms:
- Cowden's disease; Cowden's syndrome; Cowden disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0016063; MedGen: C0018553; Orphanet: 201; OMIM: PS158350
Assertion and evidence details
Last Updated: Sep 29, 2024