NM_014874.4(MFN2):c.2145C>T (p.Ala715=) AND Hereditary motor and sensory neuropathy with optic atrophy
- Germline classification:
- Likely benign (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:
- RCV000387975.5
Allele description [Variation Report for NM_014874.4(MFN2):c.2145C>T (p.Ala715=)]
NM_014874.4(MFN2):c.2145C>T (p.Ala715=)
Condition(s)
- Name:
- Hereditary motor and sensory neuropathy with optic atrophy
- Synonyms:
- CHARCOT-MARIE-TOOTH DISEASE, TYPE 6; PERIPHERAL NEUROPATHY AND OPTIC ATROPHY
- Identifiers:
- MONDO: MONDO:0019551; MedGen: C0393807
Assertion and evidence details
Last Updated: Oct 8, 2024