NM_000256.3(MYBPC3):c.1191C>T (p.Leu397=) AND Hypertrophic cardiomyopathy
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Oct 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001459041.16
Allele description [Variation Report for NM_000256.3(MYBPC3):c.1191C>T (p.Leu397=)]
NM_000256.3(MYBPC3):c.1191C>T (p.Leu397=)
Condition(s)
- Name:
- Hypertrophic cardiomyopathy
- Synonyms:
- HYPERTROPHIC MYOCARDIOPATHY
- Identifiers:
- MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639
-
secreted frizzled-related protein 1a [Oncorhynchus gorbuscha]
secreted frizzled-related protein 1a [Oncorhynchus gorbuscha]gi|2186780969|ref|XP_046202865.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 13, 2024