NM_014874.4(MFN2):c.281G>A (p.Arg94Gln) AND Neuropathy, hereditary motor and sensory, type 6A
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003332993.1
Allele description [Variation Report for NM_014874.4(MFN2):c.281G>A (p.Arg94Gln)]
NM_014874.4(MFN2):c.281G>A (p.Arg94Gln)
Condition(s)
- Name:
- Neuropathy, hereditary motor and sensory, type 6A (HMSN6A)
- Synonyms:
- NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA; HMSN VIA; CHARCOT-MARIE-TOOTH DISEASE, TYPE 6A; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011002; MedGen: CN305336; OMIM: 601152
Assertion and evidence details
Last Updated: Oct 8, 2024