NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys) AND Cardiomyopathy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001170613.2
Allele description [Variation Report for NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys)]
NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
Assertion and evidence details
Last Updated: Sep 29, 2024