NM_014874.4(MFN2):c.751C>G (p.Pro251Ala) AND Charcot-Marie-Tooth disease type 2A2
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 1, 2004
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000002360.3
Allele description [Variation Report for NM_014874.4(MFN2):c.751C>G (p.Pro251Ala)]
NM_014874.4(MFN2):c.751C>G (p.Pro251Ala)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 2A2
- Synonyms:
- CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A2; HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA2; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012231; MedGen: C4721887; Orphanet: 99947; OMIM: 609260
Assertion and evidence details
Last Updated: Apr 23, 2022