NM_000363.5(TNNI3):c.577A>G (p.Lys193Glu) AND Hypertrophic cardiomyopathy
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jan 14, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001296186.8
Allele description [Variation Report for NM_000363.5(TNNI3):c.577A>G (p.Lys193Glu)]
NM_000363.5(TNNI3):c.577A>G (p.Lys193Glu)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
Assertion and evidence details
Last Updated: Sep 29, 2024