NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) AND Hypertrophic cardiomyopathy
- Germline classification:
- Pathogenic (5 submissions)
- Last evaluated:
- Dec 15, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000758021.16
Allele description [Variation Report for NM_000257.4(MYH7):c.788T>C (p.Ile263Thr)]
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr)
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