NM_014874.4(MFN2):c.2204+13C>T AND Hereditary motor and sensory neuropathy with optic atrophy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001096347.4
Allele description [Variation Report for NM_014874.4(MFN2):c.2204+13C>T]
NM_014874.4(MFN2):c.2204+13C>T
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
-
LOC109778398 [Aegilops tauschii]
LOC109778398 [Aegilops tauschii]Gene ID:109778398Gene
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Last Updated: Sep 29, 2024