NM_170707.4(LMNA):c.1420G>A (p.Gly474Arg) AND Primary dilated cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004013535.2
Allele description [Variation Report for NM_170707.4(LMNA):c.1420G>A (p.Gly474Arg)]
NM_170707.4(LMNA):c.1420G>A (p.Gly474Arg)
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
-
PREDICTED: Ceratotherium simum simum aldehyde dehydrogenase 1 family member L1 (...
PREDICTED: Ceratotherium simum simum aldehyde dehydrogenase 1 family member L1 (LOC101406268), partial mRNAgi|955544966|ref|XM_004443571.2|Nucleotide
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Last Updated: May 7, 2024