NM_000256.3(MYBPC3):c.1091-7T>C AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003533096.1
Allele description [Variation Report for NM_000256.3(MYBPC3):c.1091-7T>C]
NM_000256.3(MYBPC3):c.1091-7T>C
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
RecName: Full=Huntingtin-interacting protein 1; Short=HIP-1; AltName: Full=Hunti...
RecName: Full=Huntingtin-interacting protein 1; Short=HIP-1; AltName: Full=Huntingtin-interacting protein I; Short=HIP-Igi|206729937|sp|O00291.5|HIP1_HUMANProtein
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See more...Assertion and evidence details
Last Updated: May 7, 2024