NM_014874.4(MFN2):c.744C>T (p.Leu248=) AND Hereditary motor and sensory neuropathy with optic atrophy
- Germline classification:
- 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:
- RCV001097892.4
Allele description [Variation Report for NM_014874.4(MFN2):c.744C>T (p.Leu248=)]
NM_014874.4(MFN2):c.744C>T (p.Leu248=)
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
-
calcium homeostasis modulator protein 5 [Rattus norvegicus]
calcium homeostasis modulator protein 5 [Rattus norvegicus]gi|68163381|ref|NP_001020148.1|Protein
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Last Updated: May 7, 2024