NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) AND Emery-Dreifuss muscular dystrophy
- 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:
- RCV001096842.4
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)
-
alpha-1-antitrypsin precursor [Homo sapiens]
alpha-1-antitrypsin precursor [Homo sapiens]gi|189163542|ref|NP_001121179.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024