NM_000256.3(MYBPC3):c.150C>T (p.Ser50=) AND Cardiomyopathy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 28, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001176025.2
Allele description [Variation Report for NM_000256.3(MYBPC3):c.150C>T (p.Ser50=)]
NM_000256.3(MYBPC3):c.150C>T (p.Ser50=)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
Homo sapiens iron-sulfur cluster assembly factor IBA57 (IBA57), transcript varia...
Homo sapiens iron-sulfur cluster assembly factor IBA57 (IBA57), transcript variant 1, mRNA; nuclear gene for mitochondrial productgi|1519245313|ref|NM_001010867.4|Nucleotide
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Last Updated: Oct 13, 2024