NM_170707.4(LMNA):c.1692C>A (p.His564Gln) AND Charcot-Marie-Tooth disease type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001368012.7
Allele description [Variation Report for NM_170707.4(LMNA):c.1692C>A (p.His564Gln)]
NM_170707.4(LMNA):c.1692C>A (p.His564Gln)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 2
- Synonyms:
- Charcot-Marie-Tooth, Type 2
- Identifiers:
- MONDO: MONDO:0018993; MedGen: C0270914
-
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calsenilin [Rattus norvegicus]
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12686486[uid] (1)
PubChem Compound
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Last Updated: Sep 29, 2024