NM_014874.4(MFN2):c.1464C>T (p.Asn488=) AND Charcot-Marie-Tooth disease type 2
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002189479.6
Allele description [Variation Report for NM_014874.4(MFN2):c.1464C>T (p.Asn488=)]
NM_014874.4(MFN2):c.1464C>T (p.Asn488=)
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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Last Updated: Sep 29, 2024