NM_000256.3(MYBPC3):c.1128C>A (p.Ser376Arg) AND Hypertrophic cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 29, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000525732.7
Allele description [Variation Report for NM_000256.3(MYBPC3):c.1128C>A (p.Ser376Arg)]
NM_000256.3(MYBPC3):c.1128C>A (p.Ser376Arg)
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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VWA1 von Willebrand factor A domain containing 1 [Homo sapiens]
VWA1 von Willebrand factor A domain containing 1 [Homo sapiens]Gene ID:64856Gene
-
Gene Links for GEO Profiles (Select 39282104) (1)
Gene
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Last Updated: Sep 29, 2024