NM_000256.3(MYBPC3):c.3683G>C (p.Arg1228Pro) AND Hypertrophic cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003998349.2
Allele description [Variation Report for NM_000256.3(MYBPC3):c.3683G>C (p.Arg1228Pro)]
NM_000256.3(MYBPC3):c.3683G>C (p.Arg1228Pro)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
-
popset representative uid 923716571[word] (76)
Protein
-
Taxonomy Links for GEO Profiles (Select 111594519) (1)
Taxonomy
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Last Updated: Sep 29, 2024