NM_000363.5(TNNI3):c.575G>A (p.Arg192His) AND Restrictive cardiomyopathy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 3, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000852483.1
Allele description [Variation Report for NM_000363.5(TNNI3):c.575G>A (p.Arg192His)]
NM_000363.5(TNNI3):c.575G>A (p.Arg192His)
Condition(s)
- Name:
- Restrictive cardiomyopathy
- Identifiers:
- MONDO: MONDO:0005201; MeSH: D002313; MedGen: C0007196; Human Phenotype Ontology: HP:0001723
Assertion and evidence details
Last Updated: May 19, 2024