NM_006218.4(PIK3CA):c.178C>A (p.Gln60Lys) AND Cowden syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000631212.8
Allele description [Variation Report for NM_006218.4(PIK3CA):c.178C>A (p.Gln60Lys)]
NM_006218.4(PIK3CA):c.178C>A (p.Gln60Lys)
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
-
Homo sapiens methylphosphate capping enzyme, mRNA (cDNA clone MGC:3013 IMAGE:316...
Homo sapiens methylphosphate capping enzyme, mRNA (cDNA clone MGC:3013 IMAGE:3162468), complete cdsgi|38014605|gb|BC000556.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024