NM_170707.4(LMNA):c.710T>C (p.Phe237Ser) AND Primary dilated cardiomyopathy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 20, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000157292.9
Allele description [Variation Report for NM_170707.4(LMNA):c.710T>C (p.Phe237Ser)]
NM_170707.4(LMNA):c.710T>C (p.Phe237Ser)
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
-
ACADSB [Cyanistes caeruleus]
ACADSB [Cyanistes caeruleus]Gene ID:111931386Gene
-
tmtc2a [Takifugu flavidus]
tmtc2a [Takifugu flavidus]Gene ID:130518951Gene
-
tmtc2a [Poecilia formosa]
tmtc2a [Poecilia formosa]Gene ID:103146216Gene
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Last Updated: Oct 13, 2024