NM_170707.4(LMNA):c.711_729delinsCC (p.Glu238fs) AND Primary dilated cardiomyopathy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 28, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000852406.8
Allele description [Variation Report for NM_170707.4(LMNA):c.711_729delinsCC (p.Glu238fs)]
NM_170707.4(LMNA):c.711_729delinsCC (p.Glu238fs)
Condition(s)
- Name:
- Primary dilated cardiomyopathy (DCM)
- Synonyms:
- Dilated Cardiomyopathy
- Identifiers:
- EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644
-
RecName: Full=Aurora kinase A- and ninein-interacting protein; Short=AIBp
RecName: Full=Aurora kinase A- and ninein-interacting protein; Short=AIBpgi|74733700|sp|Q9H7T9.1|AUNIP_HUMANProtein
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024