NM_000257.4(MYH7):c.3068C>T (p.Ala1023Val) AND Hypertrophic cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003748279.1
Allele description [Variation Report for NM_000257.4(MYH7):c.3068C>T (p.Ala1023Val)]
NM_000257.4(MYH7):c.3068C>T (p.Ala1023Val)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
-
Patient Rights
Patient RightsFundamental claims of patients, as expressed in statutes, declarations, or generally accepted moral principles. (Bioethics Thesaurus) The term is used for discussions of patie...<br/>Year introduced: 2002MeSH
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Last Updated: Feb 28, 2024