NM_006218.4(PIK3CA):c.1563T>C (p.Asn521=) AND Cowden syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000466060.10
Allele description [Variation Report for NM_006218.4(PIK3CA):c.1563T>C (p.Asn521=)]
NM_006218.4(PIK3CA):c.1563T>C (p.Asn521=)
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
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uncharacterized protein AT2G27160 [Arabidopsis thaliana]
uncharacterized protein AT2G27160 [Arabidopsis thaliana]gi|145360379|ref|NP_180284.2|Protein
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Homo sapiens elongation of very long chain fatty acids protein 1 (ELOVL1) gene, ...
Homo sapiens elongation of very long chain fatty acids protein 1 (ELOVL1) gene, complete cdsgi|1496286233|gb|MG766453.1|Nucleotide
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Rattus norvegicus GATA binding protein 2, mRNA (cDNA clone MGC:72369 IMAGE:55997...
Rattus norvegicus GATA binding protein 2, mRNA (cDNA clone MGC:72369 IMAGE:5599740), complete cdsgi|38197659|gb|BC061745.1|Nucleotide
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Homologene neighbors for GEO Profiles (Select 103784977) (0)
GEO Profiles
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BioProject Links for Protein (Select 1143076912) (2)
BioProject
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024