NM_014874.4(MFN2):c.2129T>C (p.Leu710Pro) AND Charcot-Marie-Tooth disease type 2
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000697850.6
Allele description [Variation Report for NM_014874.4(MFN2):c.2129T>C (p.Leu710Pro)]
NM_014874.4(MFN2):c.2129T>C (p.Leu710Pro)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 2
- Synonyms:
- Charcot-Marie-Tooth, Type 2
- Identifiers:
- MONDO: MONDO:0018993; MedGen: C0270914
Assertion and evidence details
Last Updated: Jun 23, 2024