NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) AND Emery-Dreifuss muscular dystrophy 2, autosomal dominant
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001098596.4
Allele description [Variation Report for NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp)]
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp)
Condition(s)
- Name:
- Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)
- Synonyms:
- MUSCULAR DYSTROPHY WITH EARLY CONTRACTURES AND CARDIOMYOPATHY, AUTOSOMAL DOMINANT; SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY; Benign scapuloperoneal muscular dystrophy with cardiomyopathy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0021569; MedGen: C0410190; Orphanet: 261; Orphanet: 264; OMIM: 181350
Assertion and evidence details
Last Updated: May 7, 2024