NM_170707.4(LMNA):c.1622G>A (p.Arg541His) AND Dilated cardiomyopathy 1A
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001262710.1
Allele description [Variation Report for NM_170707.4(LMNA):c.1622G>A (p.Arg541His)]
NM_170707.4(LMNA):c.1622G>A (p.Arg541His)
Condition(s)
- Name:
- Dilated cardiomyopathy 1A (CMD1A)
- Synonyms:
- CARDIOMYOPATHY, CONGESTIVE; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1; Idiopathic dilated cardiomyopathy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007269; MedGen: C1449563; Orphanet: 300751; OMIM: 115200
Assertion and evidence details
Last Updated: May 7, 2024