NM_000256.3(MYBPC3):c.1143C>A (p.Ile381=) AND Hypertrophic cardiomyopathy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 21, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000629113.4
Allele description
NM_000256.3(MYBPC3):c.1143C>A (p.Ile381=)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
-
elongation factor [Arabidopsis thaliana]
elongation factor [Arabidopsis thaliana]gi|15219442|ref|NP_175098.1|Protein
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See more...Assertion and evidence details
Last Updated: Dec 11, 2022