NM_000256.3(MYBPC3):c.1169A>C (p.His390Pro) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003532623.1
Allele description [Variation Report for NM_000256.3(MYBPC3):c.1169A>C (p.His390Pro)]
NM_000256.3(MYBPC3):c.1169A>C (p.His390Pro)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
CCW14 Ccw14p [Saccharomyces cerevisiae S288C]
CCW14 Ccw14p [Saccharomyces cerevisiae S288C]Gene ID:851107Gene
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Last Updated: Feb 20, 2024