NM_000256.3(MYBPC3):c.1483C>A (p.Arg495=) AND Hypertrophic cardiomyopathy
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Jan 4, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003092147.5
Allele description [Variation Report for NM_000256.3(MYBPC3):c.1483C>A (p.Arg495=)]
NM_000256.3(MYBPC3):c.1483C>A (p.Arg495=)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
-
OSIGBa0148D14.8 [Oryza sativa]
OSIGBa0148D14.8 [Oryza sativa]gi|116309095|emb|CAH66202.1|Protein
-
retinol-binding protein 5 isoform 1 [Homo sapiens]
retinol-binding protein 5 isoform 1 [Homo sapiens]gi|13899352|ref|NP_113679.1|Protein
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Last Updated: Sep 29, 2024