NM_000257.4(MYH7):c.550A>C (p.Lys184Gln) AND Hypertrophic cardiomyopathy
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Dec 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000818270.6
Allele description [Variation Report for NM_000257.4(MYH7):c.550A>C (p.Lys184Gln)]
NM_000257.4(MYH7):c.550A>C (p.Lys184Gln)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
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Last Updated: Sep 29, 2024