NM_006218.4(PIK3CA):c.1602T>C (p.Ile534=) AND Cowden syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 5, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001452427.7
Allele description [Variation Report for NM_006218.4(PIK3CA):c.1602T>C (p.Ile534=)]
NM_006218.4(PIK3CA):c.1602T>C (p.Ile534=)
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
-
cytochrome b, partial (mitochondrion) [Hypotaenidia sylvestris]
cytochrome b, partial (mitochondrion) [Hypotaenidia sylvestris]gi|459377106|gb|AGG58757.1|Protein
-
Gene rich cluster, C10 gene [Mus musculus]
Gene rich cluster, C10 gene [Mus musculus]gi|13543002|gb|AAH05683.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024