NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys) 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:
- RCV001327959.3
Allele description [Variation Report for NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys)]
NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys)
Condition(s)
- Name:
- Abnormal cardiovascular system morphology
- Synonyms:
- Abnormality of cardiovascular system morphology
- Identifiers:
- MedGen: C4049796; Human Phenotype Ontology: HP:0030680
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Rattus norvegicus ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 (...
Rattus norvegicus ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 (St8sia6), mRNAgi|47155556|ref|NM_213624.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024