NM_170707.4(LMNA):c.1566C>T (p.Cys522=) AND Emery-Dreifuss muscular dystrophy 2, autosomal dominant
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001098994.6
Allele description [Variation Report for NM_170707.4(LMNA):c.1566C>T (p.Cys522=)]
NM_170707.4(LMNA):c.1566C>T (p.Cys522=)
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
-
NADH dehydrogenase subunit 1, partial (mitochondrion) [Parnassius acco]
NADH dehydrogenase subunit 1, partial (mitochondrion) [Parnassius acco]gi|1691428524|gb|QDE56604.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024