NM_170707.4(LMNA):c.1657G>C (p.Asp553His) AND Primary dilated cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004011494.2
Allele description [Variation Report for NM_170707.4(LMNA):c.1657G>C (p.Asp553His)]
NM_170707.4(LMNA):c.1657G>C (p.Asp553His)
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
-
Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), transcript variant 1, ...
Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), transcript variant 1, mRNA; nuclear gene for mitochondrial productgi|1519242034|ref|NM_152783.5|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 7, 2024