NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) AND Charcot-Marie-Tooth disease type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 19, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000812997.7
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:
- Charcot-Marie-Tooth disease type 2
- Synonyms:
- Charcot-Marie-Tooth, Type 2
- Identifiers:
- MONDO: MONDO:0018993; MedGen: C0270914
-
Mus musculus dihydrolipoamide dehydrogenase (Dld), mRNA
Mus musculus dihydrolipoamide dehydrogenase (Dld), mRNAgi|6681188|ref|NM_007861.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024