NM_000256.3(MYBPC3):c.1350A>G (p.Lys450=) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 24, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003532617.1
Allele description [Variation Report for NM_000256.3(MYBPC3):c.1350A>G (p.Lys450=)]
NM_000256.3(MYBPC3):c.1350A>G (p.Lys450=)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
Homo sapiens integrin subunit alpha V (ITGAV), transcript variant 1, mRNA
Homo sapiens integrin subunit alpha V (ITGAV), transcript variant 1, mRNAgi|1519244702|ref|NM_002210.5|Nucleotide
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Last Updated: Feb 20, 2024